HMBS (hydroxymethylbilane synthase) - Rat Genome Database

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Gene: HMBS (hydroxymethylbilane synthase) Homo sapiens
Analyze
Symbol: HMBS
Name: hydroxymethylbilane synthase
RGD ID: 733095
HGNC Page HGNC:4982
Description: Enables hydroxymethylbilane synthase activity. Involved in heme biosynthetic process. Predicted to be active in cytosol. Implicated in acute intermittent porphyria and sickle cell anemia. Biomarker of prostate carcinoma; seminoma; and urinary bladder cancer.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: Chester type; ENCEP; LENCEP; PBG-D; PBGD; PORC; porphobilinogen deaminase; porphyria, acute; porphyria, acute, Chester type; porphyria, acute; Chester type; pre-uroporphyrinogen synthase; UPS; uroporphyrinogen I synthase; uroporphyrinogen I synthetase
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,084,881 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,084,866 - 119,093,834 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,955,591 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
1,2,4-trimethylbenzene  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4,6-trinitrotoluene  (ISO)
2,4-dinitrotoluene  (ISO)
2-palmitoylglycerol  (EXP)
3,4-methylenedioxymethamphetamine  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
5-aza-2'-deoxycytidine  (EXP)
aclacinomycin A  (EXP)
aconitine  (ISO)
acrolein  (EXP)
actinomycin D  (EXP)
all-trans-retinoic acid  (EXP)
alpha-pinene  (EXP)
aluminium ion  (ISO)
ammonium chloride  (ISO)
aristolochic acid A  (EXP)
arsenous acid  (EXP)
barium ion  (ISO)
benzene-1,2,4-triol  (EXP)
benzo[a]pyrene  (EXP)
beta-lapachone  (EXP)
bisphenol A  (ISO)
butyric acid  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcium ion  (ISO)
carbamazepine  (EXP)
carbon nanotube  (ISO)
catechol  (EXP)
CGP 52608  (EXP)
Chebulinic acid  (EXP)
chloroquine  (EXP)
chromium ion  (ISO)
chromium(6+)  (EXP)
clothianidin  (EXP)
cobalt dichloride  (EXP)
copper atom  (EXP)
copper(0)  (EXP)
copper(II) sulfate  (EXP)
dexamethasone  (EXP)
diarsenic trioxide  (EXP)
diazinon  (EXP)
dibutyl phthalate  (ISO)
diethylstilbestrol  (EXP)
dihydrofolic acid  (ISO)
elemental selenium  (EXP)
endosulfan  (ISO)
enzyme inhibitor  (EXP)
ethyl methanesulfonate  (EXP)
finasteride  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
folic acid  (ISO)
formaldehyde  (ISO)
FR900359  (EXP)
gallic acid  (EXP)
hemin  (EXP)
hexachlorobenzene  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
hydroquinone  (EXP)
imipramine  (ISO)
indometacin  (EXP)
ivermectin  (EXP)
lead diacetate  (ISO)
lead ion  (ISO)
lead(II) chloride  (EXP,ISO)
magnesium ion  (ISO)
mercury dichloride  (ISO)
methamphetamine  (ISO)
methapyrilene  (ISO)
methyl methanesulfonate  (EXP)
N-acetyl-L-cysteine  (EXP)
nefazodone  (ISO)
nickel atom  (EXP)
nickel ion  (ISO)
nitrofen  (ISO)
Nutlin-3  (EXP)
oxaliplatin  (ISO)
ozone  (EXP)
p-chloromercuribenzoic acid  (ISO)
paclitaxel  (ISO)
paracetamol  (EXP,ISO)
pentachlorophenol  (ISO)
phenol  (EXP)
pirinixic acid  (ISO)
pyrrolidine dithiocarbamate  (EXP)
quercetin  (EXP)
resveratrol  (EXP)
S-adenosyl-L-homocysteine  (EXP)
S-adenosyl-L-methioninate  (EXP)
S-adenosyl-L-methionine  (EXP)
selenium atom  (EXP)
sodium arsenite  (EXP)
sodium dichromate  (ISO)
sodium fluoride  (ISO)
sulfacetamide  (ISO)
sulfadiazine  (ISO)
sulfamerazine  (ISO)
sulfamoxole  (ISO)
sulfanilamide  (ISO)
sulfapyridine  (ISO)
sulfisomidine  (ISO)
sulfisoxazole  (ISO)
tamoxifen  (EXP)
Tellimagrandin I  (EXP)
testosterone  (EXP)
thapsigargin  (ISO)
thioacetamide  (ISO)
thiram  (EXP)
topotecan  (ISO)
trichostatin A  (EXP)
trimellitic anhydride  (ISO)
urethane  (EXP)
vinclozolin  (ISO)
zinc ion  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Cellular Component

Molecular Function

Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
Abdominal distention  (IAGP)
Abdominal pain  (IAGP)
Abnormal circulating enzyme concentration or activity  (IAGP)
Abnormal circulating porphyrin concentration  (IAGP)
Abnormal skin morphology  (IAGP)
Acute episodes of neuropathic symptoms  (IAGP)
Anemia  (IAGP)
Anxiety  (IAGP)
Apraxia  (IAGP)
Ataxia  (IAGP)
Autosomal dominant inheritance  (IAGP)
Autosomal recessive inheritance  (IAGP)
Axial hypotonia  (IAGP)
Babinski sign  (IAGP)
Back pain  (IAGP)
Brain imaging abnormality  (IAGP)
Cataract  (IAGP)
Cerebellar atrophy  (IAGP)
Childhood onset  (IAGP)
Coarse facial features  (IAGP)
Cognitive impairment  (IAGP)
Coma  (IAGP)
Confusion  (IAGP)
Congenital onset  (IAGP)
Constipation  (IAGP)
Cranial nerve paralysis  (IAGP)
Dark urine  (IAGP)
Delayed ability to walk  (IAGP)
Delayed CNS myelination  (IAGP)
Depression  (IAGP)
Diarrhea  (IAGP)
Distal muscle weakness  (IAGP)
Dysuria  (IAGP)
Elevated urinary coproporphyrin level  (IAGP)
Elevated urinary delta-aminolevulinic acid  (IAGP)
Emotional lability  (IAGP)
Excessive daytime somnolence  (IAGP)
Febrile seizure (within the age range of 3 months to 6 years)  (IAGP)
Fever  (IAGP)
Global developmental delay  (IAGP)
Hallucinations  (IAGP)
Hearing impairment  (IAGP)
Hepatocellular carcinoma  (IAGP)
Hepatomegaly  (IAGP)
Hyperbilirubinemia  (IAGP)
Hyperhidrosis  (IAGP)
Hypertension  (IAGP)
Hyponatremia  (IAGP)
Hyporeflexia  (IAGP)
Ileus  (IAGP)
Increased CSF lactate  (IAGP)
Increased urinary porphobilinogen  (IAGP)
Increased urine urobilinogen  (IAGP)
Insomnia  (IAGP)
Intention tremor  (IAGP)
Juvenile onset  (IAGP)
Kyphosis  (IAGP)
Limb pain  (IAGP)
Long philtrum  (IAGP)
Loss of ambulation  (IAGP)
Memory impairment  (IAGP)
Mental deterioration  (IAGP)
Motor axonal neuropathy  (IAGP)
Motor polyneuropathy  (IAGP)
Muscle weakness  (IAGP)
Nausea  (IAGP)
Nausea and vomiting  (IAGP)
Neck pain  (IAGP)
Neonatal onset  (IAGP)
Nystagmus  (IAGP)
Optic atrophy  (IAGP)
Optic nerve hypoplasia  (IAGP)
Orange urine  (IAGP)
Paralysis  (IAGP)
Paralytic ileus  (IAGP)
Paranoia  (IAGP)
Paresthesia  (IAGP)
Partial absence of cerebellar vermis  (IAGP)
Peripheral neuropathy  (IAGP)
Porphyrinuria  (IAGP)
Postnatal growth retardation  (IAGP)
Progressive visual loss  (IAGP)
Protruding tongue  (IAGP)
Proximal muscle weakness in lower limbs  (IAGP)
Proximal muscle weakness in upper limbs  (IAGP)
Pseudobulbar paralysis  (IAGP)
Psychotic episodes  (IAGP)
Ptosis  (IAGP)
Red urine  (IAGP)
Reduced erythrocyte porphobilinogen deaminase activity  (IAGP)
Renal insufficiency  (IAGP)
Respiratory insufficiency  (IAGP)
Respiratory paralysis  (IAGP)
Restlessness  (IAGP)
Schizophrenia  (IAGP)
Seizure  (IAGP)
Sensorimotor neuropathy  (IAGP)
Short stature  (IAGP)
Somatic sensory dysfunction  (IAGP)
Spastic paraparesis  (IAGP)
Splenomegaly  (IAGP)
Tachycardia  (IAGP)
Tremor  (IAGP)
Unsteady gait  (IAGP)
Urinary incontinence  (IAGP)
Urinary retention  (IAGP)
Visual loss  (IAGP)
Vomiting  (IAGP)
Weakness of muscles of respiration  (IAGP)
Yellow-brown discoloration of the teeth  (IAGP)
References

References - curated
# Reference Title Reference Citation
1. Biosynthesis of heme in mammals. Ajioka RS, etal., Biochim Biophys Acta. 2006 Jul;1763(7):723-36. Epub 2006 Jun 3.
2. Increased erythrocyte uroporphyrinogen-l-synthetase, delta-aminolevulinic acid dehydratase and protoporphyrin in hemolytic anemias. Anderson KE, etal., Am J Med. 1977 Sep;63(3):359-64.
3. Synthesis, delivery and regulation of eukaryotic heme and Fe-S cluster cofactors. Barupala DP, etal., Arch Biochem Biophys. 2016 Feb 15;592:60-75. doi: 10.1016/j.abb.2016.01.010. Epub 2016 Jan 16.
4. Heme and hemoproteins in streptozotocin-diabetic female rats. Bitar M and Weiner M, Biochem Pharmacol. 1983 Jun 15;32(12):1921-8.
5. Reversal of sulfamerazine inhibition of rat hepatic uroporphyrinogen synthesis by folic acid. Christenson WR, etal., Life Sci. 1986 May 5;38(18):1679-84.
6. Evidence for an ancestral founder of the common R116W mutation in the hydroxymethylbilane synthase gene in acute intermittent porphyria in The Netherlands. de Rooij FW, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):64-9.
7. Seven Novel Mutations in Bulgarian Patients with Acute Hepatic Porphyrias (AHP). Dragneva S, etal., JIMD Rep. 2014;16:57-64. doi: 10.1007/8904_2014_320. Epub 2014 Jul 6.
8. Comparative inhibition of hepatic hydroxymethylbilane synthase by both hard and soft metal cations. Farmer DJ and Hollebone BR, Can J Biochem Cell Biol. 1984 Jan;62(1):49-54. doi: 10.1139/o84-008.
9. GenMAPP: Gene Map Annotator and Pathway Profiler GenMAPP
10. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
11. Detection of a R173W mutation in the porphobilinogen deaminase gene in the Nova Scotian "foreign Protestant" population with acute intermittent porphyria: a founder effect. Greene-Davis ST, etal., Clin Biochem. 1997 Dec;30(8):607-12. doi: 10.1016/s0009-9120(97)00114-8.
12. Novel HMBS founder mutation and significant intronic polymorphism in Spanish patients with acute intermittent porphyria. Guillén-Navarro E, etal., Ann Hum Genet. 2004 Sep;68(Pt 5):509-14. doi: 10.1046/j.1529-8817.2003.00114.x.
13. Mitochondrial energetic defects in muscle and brain of a Hmbs-/- mouse model of acute intermittent porphyria. Homedan C, etal., Hum Mol Genet. 2015 Sep 1;24(17):5015-23. doi: 10.1093/hmg/ddv222. Epub 2015 Jun 12.
14. Systemic messenger RNA as an etiological treatment for acute intermittent porphyria. Jiang L, etal., Nat Med. 2018 Dec;24(12):1899-1909. doi: 10.1038/s41591-018-0199-z. Epub 2018 Oct 8.
15. Porphyria presenting with bilateral radial motor neuropathy: evidence of a novel gene mutation. King PH, etal., Neurology 2002 Apr 9;58(7):1118-21.
16. Inhibition of uroporphyrinogen I synthase activity and depression of microsomal heme and cytochrome P-450 in rat liver by bilirubin. Kohashi M, etal., Life Sci. 1984 Jan 9;34(2):193-6. doi: 10.1016/0024-3205(84)90590-3.
17. Porphobilinogen deaminase deficiency in mice causes a neuropathy resembling that of human hepatic porphyria. Lindberg RL, etal., Nat Genet. 1996 Feb;12(2):195-9.
18. Acute hepatic porphyrias: Identification of 46 hydroxymethylbilane synthase, 11 coproporphyrinogen oxidase, and 20 protoporphyrinogen oxidase novel mutations. Loskove Y, etal., Mol Genet Metab. 2019 Nov;128(3):352-357. doi: 10.1016/j.ymgme.2018.10.008. Epub 2018 Oct 26.
19. Two new mutations in the porphobilinogen deaminase gene and a screening method using PCR amplification of specific alleles. Lundin G, etal., Hum Genet. 1994 Jan;93(1):59-62. doi: 10.1007/bf00218914.
20. A splicing mutation in the hydroxymethylbilane synthase gene in a Japanese family with acute intermittent porphyria. Maeda N, etal., Clin Biochem. 1999 Aug;32(6):411-7. doi: 10.1016/s0009-9120(99)00043-0.
21. Characterization of porphobilinogen deaminase from rat liver. Mazzetti MB and Tomio JM, Biochim Biophys Acta. 1988 Nov 2;957(1):97-104.
22. Identification and characterization of HMBS gene mutations in Spanish patients with acute intermittent porphyria. Méndez M, etal., Cell Mol Biol (Noisy-le-grand). 2009 Jul 1;55(2):55-63.
23. Standardization strategy for quantitative PCR in human seminoma and normal testis. Neuvians TP, etal., J Biotechnol. 2005 May 4;117(2):163-71.
24. Gene expression studies in prostate cancer tissue: which reference gene should be selected for normalization? Ohl F, etal., J Mol Med. 2005 Dec;83(12):1014-24. Epub 2005 Oct 7.
25. Identification and validation of suitable endogenous reference genes for gene expression studies of human bladder cancer. Ohl F, etal., J Urol. 2006 May;175(5):1915-20.
26. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
27. Sulfonamide inhibition of rat hepatic uroporphyrinogen I synthetase activity and the biosynthesis of heme. Peters PG, etal., Arch Biochem Biophys. 1980 Apr 15;201(1):88-94. doi: 10.1016/0003-9861(80)90490-7.
28. KEGG Annotation Import Pipeline Pipeline to import KEGG annotations from KEGG into RGD
29. SMPDB Annotation Import Pipeline Pipeline to import SMPDB annotations from SMPDB into RGD
30. Pteridine regulation of inhibition of hepatic uroporphyrinogen L synthetase activity by lead chloride. Piper WN and Van Lier BL, Mol Pharmacol. 1977 Nov;13(6):1126-35.
31. Isolation of a factor that protects against lead inhibition of hepatic and erythrocytic uroporphyrinogen I synthetase activity. Piper WN and Van Lier RB, Life Sci. 1976 Oct 15;19(8):1225-34. doi: 10.1016/0024-3205(76)90258-7.
32. Inhibition of the biosynthesis of uroporphyrinogen and heme in rat liver during obstructive jaundice produced by bile duct ligation. Piper WN, etal., Arch Biochem Biophys. 1986 Apr;246(1):143-8.
33. Exon 1 donor splice site mutations in the porphobilinogen deaminase gene in the non-erythroid variant form of acute intermittent porphyria. Puy H, etal., Hum Genet. 1998 Nov;103(5):570-5.
34. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
35. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
36. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
37. An Inducible Promoter Responsive to Different Porphyrinogenic Stimuli Improves Gene Therapy Vectors for Acute Intermittent Porphyria. Serrano-Mendioroz I, etal., Hum Gene Ther. 2018 Apr;29(4):480-491. doi: 10.1089/hum.2017.056. Epub 2018 Jan 2.
38. Abnormal thyroid function and hypercholesterolemia in a case of acute intermittent porphyria. Shiue JW, etal., Taiwan Yi Xue Hui Za Zhi. 1989 Jul;88(7):729-31.
39. Haplotype analysis of Norwegian and Swedish patients with acute intermittent porphyria (AIP): Extreme haplotype heterogeneity for the mutation R116W. Tjensvoll K, etal., Dis Markers. 2003-2004;19(1):41-6. doi: 10.1155/2003/384971.
40. Mutation in the exon 10 (R173W) of the hydroxymethylbilane synthase gene in two unrelated Japanese families with acute intermittent porphyria. Tomie Y, etal., Res Commun Mol Pathol Pharmacol. 1998 Jan;99(1):5-15.
41. Correlation between biochemical findings, structural and enzymatic abnormalities in mutated HMBS identified in six Israeli families with acute intermittent porphyria. Ulbrichova D, etal., Blood Cells Mol Dis. 2009 Mar-Apr;42(2):167-73. doi: 10.1016/j.bcmd.2008.11.001. Epub 2009 Jan 12.
42. Detection of DNA variations in the polymorphic hydroxymethylbilane synthase gene by high-resolution melting analysis. Ulbrichova-Douderova D and Martasek P, Anal Biochem. 2009 Dec 1;395(1):41-8. doi: 10.1016/j.ab.2009.07.050. Epub 2009 Aug 5.
43. Selective accumulation of endogenously produced porphyrins in a liver metastasis model in rats. Van Hillegersberg R, etal., Gastroenterology. 1992 Aug;103(2):647-51. doi: 10.1016/0016-5085(92)90860-2.
44. Mechanism of hexachlorobenzene-induced porphyria in rats. Effect of phenobarbitone pretreatment. Wainstok de Calmanovici R, etal., Biochem J. 1984 Mar 15;218(3):753-63.
45. Sex comparison of heme pathway in rats bearing hepatic tumors. Wainstok de Calmanovici R, etal., Tumori. 1991 Oct 31;77(5):379-84.
46. Comparison of complementary and genomic DNA sequencing for the detection of mutations in the HMBS gene in British patients with acute intermittent porphyria: identification of 25 novel mutations. Whatley SD, etal., Hum Genet. 1999 Jun;104(6):505-10. doi: 10.1007/s004390050995.
47. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria. Yang J, etal., Gene. 2015 Jul 10;565(2):288-90. doi: 10.1016/j.gene.2015.04.027. Epub 2015 Apr 11.
48. Homozygous hydroxymethylbilane synthase knock-in mice provide pathogenic insights into the severe neurological impairments present in human homozygous dominant acute intermittent porphyria. Yasuda M, etal., Hum Mol Genet. 2019 Jun 1;28(11):1755-1767. doi: 10.1093/hmg/ddz003.
Additional References at PubMed
PMID:1301948   PMID:1427766   PMID:1496994   PMID:1714233   PMID:1914516   PMID:1961762   PMID:1981047   PMID:2025226   PMID:2227955   PMID:2243128   PMID:2609111   PMID:2789372  
PMID:2864531   PMID:2875434   PMID:2915972   PMID:3422427   PMID:3816774   PMID:6930671   PMID:7592566   PMID:7757070   PMID:7821789   PMID:7866402   PMID:7916736   PMID:7962538  
PMID:8081367   PMID:8103755   PMID:8262514   PMID:8262523   PMID:8268934   PMID:8270254   PMID:8340112   PMID:8401516   PMID:8825929   PMID:9199558   PMID:9225970   PMID:9463797  
PMID:9654202   PMID:10494093   PMID:10502788   PMID:10602775   PMID:10657149   PMID:10782018   PMID:10790212   PMID:11013452   PMID:11030413   PMID:11071386   PMID:11157504   PMID:11202057  
PMID:11399210   PMID:11831862   PMID:11857754   PMID:12372055   PMID:12406973   PMID:12477932   PMID:12555854   PMID:12773194   PMID:12917623   PMID:14669009   PMID:14970743   PMID:14995910  
PMID:15003823   PMID:15489334   PMID:15643298   PMID:15669678   PMID:16211556   PMID:16390615   PMID:16712791   PMID:16817012   PMID:16935474   PMID:17207965   PMID:17298216   PMID:17298217  
PMID:17459418   PMID:18004775   PMID:18029348   PMID:18070416   PMID:18405488   PMID:18406650   PMID:18554962   PMID:18627369   PMID:18936296   PMID:19021769   PMID:19207107   PMID:19292878  
PMID:19460837   PMID:19913121   PMID:20301372   PMID:20536026   PMID:20580577   PMID:20628086   PMID:20978940   PMID:21669542   PMID:21832049   PMID:21873635   PMID:22748422   PMID:23811755  
PMID:23815679   PMID:24705354   PMID:24999758   PMID:25389600   PMID:25445397   PMID:25703257   PMID:25923088   PMID:26062020   PMID:26186194   PMID:26228342   PMID:26287972   PMID:26344197  
PMID:27769855   PMID:27849156   PMID:28514442   PMID:29632172   PMID:30201327   PMID:30212967   PMID:30385858   PMID:30463901   PMID:30740734   PMID:30824926   PMID:32296183   PMID:32814053  
PMID:32916704   PMID:33961781   PMID:34089223   PMID:34349018   PMID:34373451   PMID:34523126   PMID:34681668   PMID:35256949   PMID:35509820   PMID:35987950   PMID:36215168   PMID:37788672  
PMID:38568055   PMID:39358380  


Genomics

Comparative Map Data
HMBS
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh3811119,084,881 - 119,093,549 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl11119,084,866 - 119,093,834 (+)EnsemblGRCh38hg38GRCh38
GRCh3711118,955,591 - 118,964,259 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 3611118,460,797 - 118,469,469 (+)NCBINCBI36Build 36hg18NCBI36
Build 3411118,460,802 - 118,469,467NCBI
Celera11116,113,008 - 116,121,673 (+)NCBICelera
Cytogenetic Map11q23.3NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBIHuRef
CHM1_111118,841,878 - 118,850,561 (+)NCBICHM1_1
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBIT2T-CHM13v2.0
Hmbs
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39944,247,645 - 44,255,525 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl944,247,636 - 44,255,525 (-)EnsemblGRCm39 Ensembl
GRCm38944,336,348 - 44,344,228 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl944,336,339 - 44,344,228 (-)EnsemblGRCm38mm10GRCm38
MGSCv37944,144,431 - 44,152,311 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36944,087,343 - 44,095,170 (-)NCBIMGSCv36mm8
Celera941,591,069 - 41,599,175 (-)NCBICelera
Cytogenetic Map9A5.2NCBI
cM Map924.84NCBI
Hmbs
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr8853,570,364 - 53,577,758 (-)NCBIGRCr8
mRatBN7.2844,673,554 - 44,680,950 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl844,673,554 - 44,680,957 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx850,169,431 - 50,176,911 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.0848,448,147 - 48,455,627 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.0846,318,525 - 46,325,957 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.0848,667,278 - 48,674,673 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl848,667,275 - 48,674,748 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.0847,286,249 - 47,293,618 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.4847,314,235 - 47,321,604 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.1847,323,010 - 47,328,455 (-)NCBI
Celera844,259,787 - 44,267,156 (-)NCBICelera
RH 3.4 Map8428.0RGD
Cytogenetic Map8q22NCBI
Hmbs
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541220,192,522 - 20,202,635 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495541220,192,519 - 20,202,635 (+)NCBIChiLan1.0ChiLan1.0
HMBS
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v29119,789,723 - 119,798,327 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan111120,893,421 - 120,902,024 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v011113,923,004 - 113,931,732 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.111117,852,295 - 117,860,757 (+)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl11117,852,295 - 117,860,757 (+)Ensemblpanpan1.1panPan2
HMBS
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.1514,767,306 - 14,775,205 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl514,767,666 - 14,775,082 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha514,820,660 - 14,828,175 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.0514,710,999 - 14,718,527 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl514,710,641 - 14,718,554 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.1514,849,036 - 14,856,511 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.0514,753,058 - 14,760,536 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.0514,793,431 - 14,800,910 (-)NCBIUU_Cfam_GSD_1.0
Hmbs
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404947101,116,546 - 101,124,682 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365424,037,201 - 4,050,810 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049365424,037,888 - 4,046,089 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
HMBS
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl946,300,050 - 46,308,868 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.1946,300,039 - 46,308,681 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2951,335,231 - 51,343,641 (+)NCBISscrofa10.2Sscrofa10.2susScr3
HMBS
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.11110,457,799 - 110,466,361 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl1110,457,537 - 110,466,095 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604315,567,851 - 15,576,221 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Hmbs
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462478414,467,533 - 14,474,954 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462478414,467,515 - 14,474,954 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in HMBS
565 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_000190.4(HMBS):c.104C>T (p.Thr35Met) single nucleotide variant Acute intermittent porphyria [RCV001254080]|not provided [RCV000522139] Chr11:119088651 [GRCh38]
Chr11:118959361 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.160A>C (p.Ile54Leu) single nucleotide variant Acute intermittent porphyria [RCV001104610]|not provided [RCV000520884] Chr11:119088707 [GRCh38]
Chr11:118959417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+1G>A single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001506]|not provided [RCV002512650] Chr11:119085067 [GRCh38]
Chr11:118955777 [GRCh37]
Chr11:11q23.3		 pathogenic
HMBS, EX12DEL single nucleotide variant Acute intermittent porphyria [RCV000001507] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.77G>A (p.Arg26His) single nucleotide variant Acute intermittent porphyria [RCV000001508]|not provided [RCV000798844] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.33+1G>T single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001509]|not provided [RCV002512651] Chr11:119085067 [GRCh38]
Chr11:118955777 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.346C>T (p.Arg116Trp) single nucleotide variant Acute intermittent porphyria [RCV000001510]|not provided [RCV001212053] Chr11:119089991 [GRCh38]
Chr11:118960701 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.500G>A (p.Arg167Gln) single nucleotide variant Acute intermittent porphyria [RCV000001511]|Encephalopathy, porphyria-related [RCV003764509]|Leukoencephalopathy, porphyria-related [RCV003764510]|not provided [RCV000520560] Chr11:119091414 [GRCh38]
Chr11:118962124 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|conflicting data from submitters
NM_000190.4(HMBS):c.518G>A (p.Arg173Gln) single nucleotide variant Acute intermittent porphyria [RCV000001512]|Encephalopathy, porphyria-related [RCV003764511]|not provided [RCV001851550] Chr11:119091432 [GRCh38]
Chr11:118962142 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.463C>T (p.Gln155Ter) single nucleotide variant Acute intermittent porphyria [RCV000001513] Chr11:119090230 [GRCh38]
Chr11:118960940 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.446G>A (p.Arg149Gln) single nucleotide variant Acute intermittent porphyria [RCV000001514] Chr11:119090213 [GRCh38]
Chr11:118960923 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.734T>G (p.Leu245Arg) single nucleotide variant Acute intermittent porphyria [RCV000001515] Chr11:119092486 [GRCh38]
Chr11:118963196 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.900del (p.His300fs) deletion Acute intermittent porphyria [RCV000001516] Chr11:119093009 [GRCh38]
Chr11:118963719 [GRCh37]
Chr11:11q23.3		 pathogenic
HMBS, 9-BP DEL, EX10 single nucleotide variant Acute intermittent porphyria [RCV000001517] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.593G>A (p.Trp198Ter) single nucleotide variant Acute intermittent porphyria [RCV000001518] Chr11:119091507 [GRCh38]
Chr11:118962217 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.91G>A (p.Ala31Thr) single nucleotide variant Acute intermittent porphyria [RCV000001519] Chr11:119088638 [GRCh38]
Chr11:118959348 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.100C>A (p.Gln34Lys) single nucleotide variant Acute intermittent porphyria [RCV000001520] Chr11:119088647 [GRCh38]
Chr11:118959357 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.499C>T (p.Arg167Trp) single nucleotide variant Acute intermittent porphyria [RCV000001521]|Encephalopathy, porphyria-related [RCV003764512]|not provided [RCV000489906] Chr11:119091413 [GRCh38]
Chr11:118962123 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.500G>T (p.Arg167Leu) single nucleotide variant Acute intermittent porphyria [RCV000001522] Chr11:119091414 [GRCh38]
Chr11:118962124 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.163G>T (p.Ala55Ser) single nucleotide variant Acute intermittent porphyria [RCV000001523]|not provided [RCV002272005]|not specified [RCV003234886] Chr11:119089084 [GRCh38]
Chr11:118959794 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.174del (p.Thr59fs) deletion Acute intermittent porphyria [RCV000001524] Chr11:119089094 [GRCh38]
Chr11:118959804 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.181dup (p.Asp61fs) duplication Acute intermittent porphyria [RCV000001525] Chr11:119089098..119089099 [GRCh38]
Chr11:118959808..118959809 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.211-1G>A single nucleotide variant Acute intermittent porphyria [RCV000001526] Chr11:119089216 [GRCh38]
Chr11:118959926 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.601C>T (p.Arg201Trp) single nucleotide variant Acute intermittent porphyria [RCV000001527]|Encephalopathy, porphyria-related [RCV004584591]|not provided [RCV000432186] Chr11:119091515 [GRCh38]
Chr11:118962225 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
HMBS, 2-BP DEL, 218AG deletion Acute intermittent porphyria [RCV000001528] Chr11:11q23.3 pathogenic
NM_000190.4(HMBS):c.331G>A (p.Gly111Arg) single nucleotide variant Acute intermittent porphyria [RCV000001529]|not provided [RCV001381874] Chr11:119089747 [GRCh38]
Chr11:118960457 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.499-1G>A single nucleotide variant Acute intermittent porphyria [RCV000001530]|not provided [RCV001389654] Chr11:119091412 [GRCh38]
Chr11:118962122 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.530T>G (p.Leu177Arg) single nucleotide variant Acute intermittent porphyria [RCV000001531]|not provided [RCV000795368] Chr11:119091444 [GRCh38]
Chr11:118962154 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.667G>A (p.Glu223Lys) single nucleotide variant Acute intermittent porphyria [RCV000001532]|not provided [RCV001209137] Chr11:119092419 [GRCh38]
Chr11:118963129 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.730_731del (p.Leu244fs) microsatellite Acute intermittent porphyria [RCV000001533]|not provided [RCV001389655] Chr11:119092480..119092481 [GRCh38]
Chr11:118963190..118963191 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.739T>C (p.Cys247Arg) single nucleotide variant Acute intermittent porphyria [RCV000001534]|not provided [RCV002298429] Chr11:119092491 [GRCh38]
Chr11:118963201 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.734_741dup (p.Ile248fs) duplication Acute intermittent porphyria [RCV000001535] Chr11:119092481..119092482 [GRCh38]
Chr11:118963191..118963192 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.748G>A (p.Glu250Lys) single nucleotide variant Acute intermittent porphyria [RCV000001536] Chr11:119092500 [GRCh38]
Chr11:118963210 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.754G>A (p.Ala252Thr) single nucleotide variant Acute intermittent porphyria [RCV000001537]|not provided [RCV002512652] Chr11:119092506 [GRCh38]
Chr11:118963216 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.755C>T (p.Ala252Val) single nucleotide variant Acute intermittent porphyria [RCV000001538] Chr11:119092507 [GRCh38]
Chr11:118963217 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.766C>A (p.His256Asn) single nucleotide variant Acute intermittent porphyria [RCV000001539] Chr11:119092518 [GRCh38]
Chr11:118963228 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.771+1G>C single nucleotide variant Acute intermittent porphyria [RCV000001540] Chr11:119092524 [GRCh38]
Chr11:118963234 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.913-1G>A single nucleotide variant Acute intermittent porphyria [RCV000001541]|not provided [RCV001851551] Chr11:119093109 [GRCh38]
Chr11:118963819 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.266+1G>C single nucleotide variant Acute intermittent porphyria [RCV000001542] Chr11:119089273 [GRCh38]
Chr11:118959983 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.647G>A (p.Gly216Asp) single nucleotide variant Acute intermittent porphyria [RCV000001543]|not provided [RCV001851552] Chr11:119092159 [GRCh38]
Chr11:118962869 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.847_848del (p.Trp283fs) deletion Acute intermittent porphyria [RCV000001544] Chr11:119092956..119092957 [GRCh38]
Chr11:118963666..118963667 [GRCh37]
Chr11:11q23.3		 pathogenic
NG_008093.1:g.9237_9238insAluYa59225_9237dup insertion Acute intermittent porphyria [RCV000001545] Chr11:11q23.3 pathogenic
NC_000011.10:g.119084880del deletion Porphyria, acute intermittent, nonerythroid variant [RCV000001546] Chr11:119084879 [GRCh38]
Chr11:118955589 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.41del (p.Asn14fs) deletion Porphyria, acute intermittent, nonerythroid variant [RCV000001547] Chr11:119088259 [GRCh38]
Chr11:118958969 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.849G>A (p.Trp283Ter) single nucleotide variant Acute intermittent porphyria [RCV000001548]|not provided [RCV000418446] Chr11:119092958 [GRCh38]
Chr11:118963668 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.1A>G (p.Met1Val) single nucleotide variant Porphyria, acute intermittent, nonerythroid variant [RCV000001549]|not provided [RCV001851553] Chr11:119085034 [GRCh38]
Chr11:118955744 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.242T>C (p.Leu81Pro) single nucleotide variant Encephalopathy, porphyria-related [RCV003764513] Chr11:119089248 [GRCh38]
Chr11:118959958 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.445C>T (p.Arg149Ter) single nucleotide variant Acute intermittent porphyria [RCV000001551]|HMBS-related disorder [RCV003924793]|not provided [RCV001389642] Chr11:119090212 [GRCh38]
Chr11:118960922 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000050331] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3 copy number gain See cases [RCV000050627] Chr11:113444446..120648921 [GRCh38]
Chr11:113315168..120519630 [GRCh37]
Chr11:112820378..120024840 [NCBI36]
Chr11:11q23.2-23.3		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:118789765-134998513)x3 copy number gain See cases [RCV000051213] Chr11:118789765..134998513 [GRCh38]
Chr11:118660474..134868407 [GRCh37]
Chr11:118165684..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3 copy number gain See cases [RCV000053638] Chr11:100348599..135040246 [GRCh38]
Chr11:100219331..134910140 [GRCh37]
Chr11:99724541..134415350 [NCBI36]
Chr11:11q22.1-25		 pathogenic
NM_000190.4(HMBS):c.1078_*46del (p.Ala360fs) deletion Acute intermittent porphyria [RCV000664186] Chr11:119093274..119093328 [GRCh38]
Chr11:118963984..118964038 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.1075G>A (p.Asp359Asn) single nucleotide variant Acute intermittent porphyria [RCV000148507]|not provided [RCV001356682] Chr11:119093272 [GRCh38]
Chr11:118963982 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000190.4(HMBS):c.962G>A (p.Arg321His) single nucleotide variant Acute intermittent porphyria [RCV000148508]|not provided [RCV000730694] Chr11:119093159 [GRCh38]
Chr11:118963869 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000190.4(HMBS):c.583C>T (p.Arg195Cys) single nucleotide variant Acute intermittent porphyria [RCV000148509]|not provided [RCV001041963] Chr11:119091497 [GRCh38]
Chr11:118962207 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.257A>T (p.Glu86Val) single nucleotide variant Acute intermittent porphyria [RCV000148510]|HMBS-related disorder [RCV003927449]|not provided [RCV001514054] Chr11:119089263 [GRCh38]
Chr11:118959973 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000190.4(HMBS):c.674G>A (p.Arg225Gln) single nucleotide variant Acute intermittent porphyria [RCV000148511]|Leukoencephalopathy, porphyria-related [RCV003764896]|not provided [RCV000498317] Chr11:119092426 [GRCh38]
Chr11:118963136 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.427G>A (p.Val143Met) single nucleotide variant Inborn genetic diseases [RCV000190761]|not provided [RCV002517030] Chr11:119090194 [GRCh38]
Chr11:118960904 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.275T>C (p.Leu92Pro) single nucleotide variant Acute intermittent porphyria [RCV001332261] Chr11:119089691 [GRCh38]
Chr11:118960401 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.826-2A>T single nucleotide variant Acute intermittent porphyria [RCV001332263]|HMBS-related disorder [RCV003983876]|not provided [RCV004793436] Chr11:119092933 [GRCh38]
Chr11:118963643 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3 copy number gain See cases [RCV000134064] Chr11:116851372..134998526 [GRCh38]
Chr11:116722088..134868420 [GRCh37]
Chr11:116227298..134373630 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3 copy number gain See cases [RCV000137582] Chr11:112864326..131189315 [GRCh38]
Chr11:112832130..131059210 [GRCh37]
Chr11:112240259..130564420 [NCBI36]
Chr11:11q23.2-25		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3 copy number gain See cases [RCV000137453] Chr11:116868935..135075271 [GRCh38]
Chr11:116739651..134945165 [GRCh37]
Chr11:116244861..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic|conflicting data from submitters
GRCh38/hg38 11q23.3(chr11:118933083-119215291)x3 copy number gain See cases [RCV000137489] Chr11:118933083..119215291 [GRCh38]
Chr11:118803792..119086001 [GRCh37]
Chr11:118309002..118591211 [NCBI36]
Chr11:11q23.3		 likely benign
GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3 copy number gain See cases [RCV000138307] Chr11:116806268..135075271 [GRCh38]
Chr11:116676984..134945165 [GRCh37]
Chr11:116182194..134450377 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh38/hg38 11q23.3-24.2(chr11:117333952-127709156)x3 copy number gain See cases [RCV000139362] Chr11:117333952..127709156 [GRCh38]
Chr11:117204668..127579051 [GRCh37]
Chr11:116709878..127084261 [NCBI36]
Chr11:11q23.3-24.2		 pathogenic
GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3 copy number gain See cases [RCV000148276] Chr11:116851395..134998513 [GRCh38]
Chr11:116722111..134868407 [GRCh37]
Chr11:116227321..134373617 [NCBI36]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116691675-134889485) copy number gain not provided [RCV000767667] Chr11:116691675..134889485 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.771G>A (p.Leu257=) single nucleotide variant Acute intermittent porphyria [RCV002255098]|not provided [RCV000578508] Chr11:119092523 [GRCh38]
Chr11:118963233 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.669_698del (p.Glu223_Leu232del) deletion Acute intermittent porphyria [RCV000625717] Chr11:119092417..119092446 [GRCh38]
Chr11:118963127..118963156 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.606G>T (p.Val202=) single nucleotide variant Acute intermittent porphyria [RCV000262555]|Congenital disorder of glycosylation [RCV000402560]|not provided [RCV001510018]|not specified [RCV000243574] Chr11:119091520 [GRCh38]
Chr11:119091520..119091521 [GRCh38]
Chr11:118962230 [GRCh37]
Chr11:118962230..118962231 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.88-14G>A single nucleotide variant Acute intermittent porphyria [RCV000403932]|not provided [RCV001518456]|not specified [RCV000253501] Chr11:119088621 [GRCh38]
Chr11:119088621..119088622 [GRCh38]
Chr11:118959331 [GRCh37]
Chr11:118959331..118959332 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.3(HMBS):c.-235T>A single nucleotide variant not provided [RCV001682961]|not specified [RCV000251594] Chr11:119084799 [GRCh38]
Chr11:118955509 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.737G>A (p.Arg246His) single nucleotide variant Acute intermittent porphyria [RCV000764956]|not provided [RCV000521233] Chr11:119092489 [GRCh38]
Chr11:118963199 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3 copy number gain See cases [RCV000240308] Chr11:115215434..120559928 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.613-19C>A single nucleotide variant Acute intermittent porphyria [RCV000606962]|not provided [RCV001518603]|not specified [RCV000248316] Chr11:119092106 [GRCh38]
Chr11:118962816 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.345-9C>T single nucleotide variant Acute intermittent porphyria [RCV000368824]|HMBS-related disorder [RCV003950016]|not provided [RCV002520676] Chr11:119089981 [GRCh38]
Chr11:118960691 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.1026G>A (p.Leu342=) single nucleotide variant Acute intermittent porphyria [RCV000322175]|not provided [RCV000910009] Chr11:119093223 [GRCh38]
Chr11:118963933 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.-65C>T single nucleotide variant Acute intermittent porphyria [RCV000283859]|not provided [RCV004706800] Chr11:119084969 [GRCh38]
Chr11:118955679 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.*101G>A single nucleotide variant Acute intermittent porphyria [RCV000291325] Chr11:119093384 [GRCh38]
Chr11:118964094 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.717C>T (p.His239=) single nucleotide variant Acute intermittent porphyria [RCV000261203]|not provided [RCV000896143] Chr11:119092469 [GRCh38]
Chr11:118963179 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.1020C>T (p.Asn340=) single nucleotide variant Acute intermittent porphyria [RCV000264779]|HMBS-related disorder [RCV003920242]|not provided [RCV000896602] Chr11:119093217 [GRCh38]
Chr11:118963927 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000190.4(HMBS):c.612+4G>A single nucleotide variant Acute intermittent porphyria [RCV000319841]|not provided [RCV001065053] Chr11:119091530 [GRCh38]
Chr11:118962240 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.723C>T (p.Pro241=) single nucleotide variant Acute intermittent porphyria [RCV000323412]|not provided [RCV001517487] Chr11:119092475 [GRCh38]
Chr11:118963185 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.-28A>C single nucleotide variant Acute intermittent porphyria [RCV000345889]|not provided [RCV000923727]|not specified [RCV003993924] Chr11:119085006 [GRCh38]
Chr11:118955716 [GRCh37]
Chr11:11q23.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_000190.4(HMBS):c.135G>A (p.Ser45=) single nucleotide variant Acute intermittent porphyria [RCV000370127]|not provided [RCV000909617] Chr11:119088682 [GRCh38]
Chr11:118959392 [GRCh37]
Chr11:11q23.3		 benign|likely benign|uncertain significance
NM_000190.4(HMBS):c.105G>C (p.Thr35=) single nucleotide variant Acute intermittent porphyria [RCV000308478]|not provided [RCV003727655] Chr11:119088652 [GRCh38]
Chr11:118959362 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.615C>G (p.Ile205Met) single nucleotide variant Acute intermittent porphyria [RCV000353646]|not provided [RCV001859798] Chr11:119092127 [GRCh38]
Chr11:118962837 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.303C>T (p.Pro101=) single nucleotide variant Acute intermittent porphyria [RCV000311906]|not provided [RCV000903315] Chr11:119089719 [GRCh38]
Chr11:118960429 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.210+5C>A single nucleotide variant Acute intermittent porphyria [RCV000390553]|not provided [RCV000892159] Chr11:119089136 [GRCh38]
Chr11:118959846 [GRCh37]
Chr11:11q23.3		 benign|likely benign
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25		 pathogenic
NM_001382.4(DPAGT1):c.*184G>A single nucleotide variant Acute intermittent porphyria [RCV000313130]|Congenital disorder of glycosylation [RCV000404523]|DPAGT1-congenital disorder of glycosylation [RCV001105858]|not provided [RCV001683220] Chr11:119096814 [GRCh38]
Chr11:118967524 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.*94T>C single nucleotide variant Acute intermittent porphyria [RCV000383725] Chr11:119093377 [GRCh38]
Chr11:118964087 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001382.4(DPAGT1):c.*265A>G single nucleotide variant Acute intermittent porphyria [RCV000390794]|Congenital disorder of glycosylation [RCV000337141]|DPAGT1-congenital disorder of glycosylation [RCV001105856] Chr11:119096733 [GRCh38]
Chr11:118967443 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001382.4(DPAGT1):c.*417T>C single nucleotide variant Acute intermittent porphyria [RCV000357296]|Congenital disorder of glycosylation [RCV000352190]|DPAGT1-congenital disorder of glycosylation [RCV001104699]|not provided [RCV001675786] Chr11:119096581 [GRCh38]
Chr11:118967291 [GRCh37]
Chr11:11q23.3		 benign
NM_001382.4(DPAGT1):c.994T>G (p.Phe332Val) single nucleotide variant Acute intermittent porphyria [RCV000332550]|DPAGT1-congenital disorder of glycosylation [RCV000537045]|DPAGT1-congenital disorder of glycosylation [RCV001105862]|DPAGT1-related disorder [RCV003945207]|not provided [RCV000153164] Chr11:119097475 [GRCh38]
Chr11:118968185 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_001382.4(DPAGT1):c.*159G>A single nucleotide variant Acute intermittent porphyria [RCV000367912]|DPAGT1-congenital disorder of glycosylation [RCV001105859] Chr11:119096839 [GRCh38]
Chr11:118967549 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_001382.4(DPAGT1):c.1177A>G (p.Ile393Val) single nucleotide variant Acute intermittent porphyria [RCV000277995]|Congenital disorder of glycosylation [RCV000354528]|Congenital myasthenic syndrome 13 [RCV001664275]|DPAGT1-congenital disorder of glycosylation [RCV001105861]|DPAGT1-congenital disorder of glycosylation [RCV001510136]|not provided [RCV004707911]|not specified [RCV000079665] Chr11:119097048 [GRCh38]
Chr11:118967758 [GRCh37]
Chr11:11q23.3		 benign
NM_001382.4(DPAGT1):c.*427T>G single nucleotide variant Acute intermittent porphyria [RCV000297727]|Congenital disorder of glycosylation [RCV000294857]|DPAGT1-congenital disorder of glycosylation [RCV001104698]|not provided [RCV001786356] Chr11:119096571 [GRCh38]
Chr11:118967281 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.*194A>G single nucleotide variant Acute intermittent porphyria [RCV000343985] Chr11:119093477 [GRCh38]
Chr11:118964187 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.815A>C (p.Lys272Thr) single nucleotide variant Acute intermittent porphyria [RCV000415636]|not provided [RCV003669147] Chr11:119092801 [GRCh38]
Chr11:118963511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.400del (p.Thr133_Leu134insTer) deletion Acute intermittent porphyria [RCV001197501]|Vomiting [RCV000415135] Chr11:119090043 [GRCh38]
Chr11:118960753 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.958del (p.Ala320fs) deletion Abdominal pain [RCV000415138] Chr11:119093155 [GRCh38]
Chr11:118963865 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.267-3_267-2del microsatellite not provided [RCV000734620] Chr11:119089678..119089679 [GRCh38]
Chr11:118960388..118960389 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.532G>A (p.Asp178Asn) single nucleotide variant Acute intermittent porphyria [RCV000779045]|not provided [RCV000413917] Chr11:119091446 [GRCh38]
Chr11:118962156 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000449449] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.799G>A (p.Val267Met) single nucleotide variant not provided [RCV000430573] Chr11:119092785 [GRCh38]
Chr11:118963495 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116684163-134938470)x3 copy number gain See cases [RCV000447848] Chr11:116684163..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.655G>A (p.Ala219Thr) single nucleotide variant not provided [RCV000484759] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity
NM_000190.4(HMBS):c.211-4del deletion not specified [RCV000487036] Chr11:119089212 [GRCh38]
Chr11:118959922 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.350A>T (p.Glu117Val) single nucleotide variant not provided [RCV000497596] Chr11:119089995 [GRCh38]
Chr11:118960705 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.980C>T (p.Pro327Leu) single nucleotide variant not provided [RCV000494250] Chr11:119093177 [GRCh38]
Chr11:118963887 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470) copy number gain See cases [RCV000511729] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3 copy number gain See cases [RCV000510881] Chr11:230616..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
NM_000190.4(HMBS):c.33+123_33+135del deletion not provided [RCV000513984] Chr11:119085173..119085185 [GRCh38]
Chr11:118955883..118955895 [GRCh37]
Chr11:11q23.3		 likely benign
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain See cases [RCV000512291] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.26C>A (p.Ala9Glu) single nucleotide variant Acute intermittent porphyria [RCV001102686]|not provided [RCV001860291]|not specified [RCV000605528] Chr11:119085059 [GRCh38]
Chr11:118955769 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3 copy number gain not provided [RCV000683373] Chr11:116681007..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3 copy number gain not provided [RCV000683365] Chr11:116669751..120979377 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.535del (p.Glu179fs) deletion Abnormal circulating porphyrin concentration [RCV001003599] Chr11:119091449 [GRCh38]
Chr11:118962159 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
Single allele duplication Schizophrenia [RCV000754124] Chr11:118989374..135076622 [GRCh38]
Chr11:11q23.3-25		 likely pathogenic
GRCh37/hg19 11p15.5-q25(chr11:70864-134938470)x3 copy number gain not provided [RCV000749874] Chr11:70864..134938470 [GRCh37]
Chr11:11p15.5-q25		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116697066-134934063)x3 copy number gain not provided [RCV000737686] Chr11:116697066..134934063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.161-60C>T single nucleotide variant not provided [RCV001541459] Chr11:119089022 [GRCh38]
Chr11:118959732 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.891dup (p.Thr298fs) duplication Acute intermittent porphyria [RCV000755705] Chr11:119092999..119093000 [GRCh38]
Chr11:118963709..118963710 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.534C>T (p.Asp178=) single nucleotide variant not provided [RCV000922927] Chr11:119091448 [GRCh38]
Chr11:118962158 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.135G>C (p.Ser45=) single nucleotide variant not provided [RCV000982229] Chr11:119088682 [GRCh38]
Chr11:118959392 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.267-56_267-49del deletion not provided [RCV000927575] Chr11:119089622..119089629 [GRCh38]
Chr11:118960332..118960339 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.609G>A (p.Gly203=) single nucleotide variant not provided [RCV000904413] Chr11:119091523 [GRCh38]
Chr11:118962233 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1053G>A (p.Leu351=) single nucleotide variant not provided [RCV000880462] Chr11:119093250 [GRCh38]
Chr11:118963960 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.161-1G>C single nucleotide variant not provided [RCV001045295] Chr11:119089081 [GRCh38]
Chr11:118959791 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.10:g.(?_119091400)_(119093560_?)del deletion not provided [RCV001031972] Chr11:118962110..118964270 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.771+2T>C single nucleotide variant not provided [RCV001043485] Chr11:119092525 [GRCh38]
Chr11:118963235 [GRCh37]
Chr11:11q23.3		 pathogenic
GRCh37/hg19 11q23.3-25(chr11:116700253-134904063) copy number gain not provided [RCV000767816] Chr11:116700253..134904063 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.623_624del (p.Pro208fs) deletion not provided [RCV000806788] Chr11:119092135..119092136 [GRCh38]
Chr11:118962845..118962846 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.132C>T (p.Ala44=) single nucleotide variant not provided [RCV000897064] Chr11:119088679 [GRCh38]
Chr11:118959389 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.160+5G>C single nucleotide variant Acute intermittent porphyria [RCV000855547] Chr11:119088712 [GRCh38]
Chr11:118959422 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.285C>T (p.His95=) single nucleotide variant not provided [RCV000929894] Chr11:119089701 [GRCh38]
Chr11:118960411 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.195T>C (p.Asp65=) single nucleotide variant not provided [RCV000919432] Chr11:119089116 [GRCh38]
Chr11:118959826 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.-103C>T single nucleotide variant not provided [RCV000927578] Chr11:119084931 [GRCh38]
Chr11:118955641 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.258G>A (p.Glu86=) single nucleotide variant HMBS-related disorder [RCV003975694]|not provided [RCV000897924] Chr11:119089264 [GRCh38]
Chr11:118959974 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.662G>A (p.Gly221Asp) single nucleotide variant not provided [RCV000822584] Chr11:119092414 [GRCh38]
Chr11:118963124 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.323del (p.Phe108fs) deletion not provided [RCV000813830] Chr11:119089738 [GRCh38]
Chr11:118960448 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.168_169del (p.Met56fs) deletion not provided [RCV000797501] Chr11:119089088..119089089 [GRCh38]
Chr11:118959798..118959799 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.33G>C (p.Ala11=) single nucleotide variant not provided [RCV000793790] Chr11:119085066 [GRCh38]
Chr11:118955776 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.76C>T (p.Arg26Cys) single nucleotide variant Acute intermittent porphyria [RCV003152734]|not provided [RCV000799514] Chr11:119088297 [GRCh38]
Chr11:118959007 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.612+1G>A single nucleotide variant not provided [RCV000799557] Chr11:119091527 [GRCh38]
Chr11:118962237 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.77G>T (p.Arg26Leu) single nucleotide variant not provided [RCV000824246] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.719A>G (p.Asp240Gly) single nucleotide variant not provided [RCV000791929] Chr11:119092471 [GRCh38]
Chr11:118963181 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.345-1G>A single nucleotide variant not provided [RCV000822122] Chr11:119089989 [GRCh38]
Chr11:118960699 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.517C>T (p.Arg173Trp) single nucleotide variant Acute intermittent porphyria [RCV001198558]|HMBS-related disorder [RCV004748972]|not provided [RCV000804261] Chr11:119091431 [GRCh38]
Chr11:118962141 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV000816632] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1057G>A (p.Val353Ile) single nucleotide variant not provided [RCV000815951] Chr11:119093254 [GRCh38]
Chr11:118963964 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3-25(chr11:117830263-134938470)x3 copy number gain not provided [RCV000848151] Chr11:117830263..134938470 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NM_000190.4(HMBS):c.612G>T (p.Gln204His) single nucleotide variant Acute intermittent porphyria [RCV002249519]|not provided [RCV000807846] Chr11:119091526 [GRCh38]
Chr11:118962236 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.299T>C (p.Leu100Pro) single nucleotide variant not provided [RCV000814222] Chr11:119089715 [GRCh38]
Chr11:118960425 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.992C>T (p.Ala331Val) single nucleotide variant Acute intermittent porphyria [RCV001535464]|not provided [RCV001056204] Chr11:119093189 [GRCh38]
Chr11:118963899 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance|not provided
NM_000190.4(HMBS):c.716del (p.His239fs) deletion not provided [RCV000794226] Chr11:119092468 [GRCh38]
Chr11:118963178 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.219_220del (p.Ser75fs) microsatellite Acute intermittent porphyria [RCV002280823]|not provided [RCV000809200] Chr11:119089221..119089222 [GRCh38]
Chr11:118959931..118959932 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.1084del (p.Ter362AsnextTer?) deletion not provided [RCV000794802] Chr11:119093280 [GRCh38]
Chr11:118963990 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NM_000190.4(HMBS):c.655G>T (p.Ala219Ser) single nucleotide variant Acute intermittent porphyria [RCV000850508]|not provided [RCV001759639]|not specified [RCV003489938] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.673C>T (p.Arg225Ter) single nucleotide variant HMBS-related disorder [RCV003908095]|not provided [RCV000796426] Chr11:119092425 [GRCh38]
Chr11:118963135 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.874C>T (p.Gln292Ter) single nucleotide variant Acute intermittent porphyria [RCV003152735]|not provided [RCV000807669] Chr11:119092983 [GRCh38]
Chr11:118963693 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.457C>T (p.Gln153Ter) single nucleotide variant not provided [RCV000807732] Chr11:119090224 [GRCh38]
Chr11:118960934 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.347G>A (p.Arg116Gln) single nucleotide variant Acute intermittent porphyria [RCV001107356]|not provided [RCV000799967] Chr11:119089992 [GRCh38]
Chr11:118960702 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.544dup (p.Glu182fs) duplication not provided [RCV000814281] Chr11:119091456..119091457 [GRCh38]
Chr11:118962166..118962167 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.636G>A (p.Met212Ile) single nucleotide variant not provided [RCV001056264] Chr11:119092148 [GRCh38]
Chr11:118962858 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)del deletion Combined immunodeficiency due to CD3gamma deficiency [RCV001382626]|Immunodeficiency 18 [RCV001389243]|Immunodeficiency 19 [RCV001031688]|Inflammatory bowel disease 28 [RCV001386823] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.913-2A>G single nucleotide variant not provided [RCV001060553] Chr11:119093108 [GRCh38]
Chr11:118963818 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.940_941del (p.Gln314fs) microsatellite not provided [RCV001229602] Chr11:119093135..119093136 [GRCh38]
Chr11:118963845..118963846 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.913-1G>C single nucleotide variant not provided [RCV001247826] Chr11:119093109 [GRCh38]
Chr11:118963819 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.186G>C (p.Lys62Asn) single nucleotide variant Acute intermittent porphyria [RCV001253215]|not provided [RCV001214092] Chr11:119089107 [GRCh38]
Chr11:118959817 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.652-2del deletion not provided [RCV001234837] Chr11:119092402 [GRCh38]
Chr11:118963112 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.207dup (p.Lys70Ter) duplication not provided [RCV001210087] Chr11:119089127..119089128 [GRCh38]
Chr11:118959837..118959838 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.61A>T (p.Ile21Phe) single nucleotide variant not provided [RCV001218766] Chr11:119088282 [GRCh38]
Chr11:118958992 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.613-1G>A single nucleotide variant Acute intermittent porphyria [RCV001198011] Chr11:119092124 [GRCh38]
Chr11:118962834 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.654G>A (p.Gly218=) single nucleotide variant Acute intermittent porphyria [RCV001107357] Chr11:119092406 [GRCh38]
Chr11:118963116 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.409C>T (p.Leu137=) single nucleotide variant not provided [RCV003104267] Chr11:119090054 [GRCh38]
Chr11:118960764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.34-96G>T single nucleotide variant not provided [RCV001641930] Chr11:119088159 [GRCh38]
Chr11:119088159..119088160 [GRCh38]
Chr11:118958869 [GRCh37]
Chr11:118958869..118958870 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.498+256T>C single nucleotide variant not provided [RCV001710121] Chr11:119090521 [GRCh38]
Chr11:118961231 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.30G>A (p.Thr10=) single nucleotide variant not provided [RCV000932376] Chr11:119085063 [GRCh38]
Chr11:118955773 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.772-17A>G single nucleotide variant HMBS-related disorder [RCV003925838]|not provided [RCV000941486] Chr11:119092741 [GRCh38]
Chr11:118963451 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.134C>T (p.Ser45Leu) single nucleotide variant Acute intermittent porphyria [RCV001104609]|not provided [RCV000888463] Chr11:119088681 [GRCh38]
Chr11:118959391 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.477G>A (p.Pro159=) single nucleotide variant not provided [RCV000901905] Chr11:119090244 [GRCh38]
Chr11:118960954 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.330C>T (p.Ile110=) single nucleotide variant not provided [RCV000888959] Chr11:119089746 [GRCh38]
Chr11:118960456 [GRCh37]
Chr11:11q23.3		 benign|likely benign
NM_000190.4(HMBS):c.210_210+5delinsT indel not provided [RCV001243098] Chr11:119089131..119089136 [GRCh38]
Chr11:118959841..118959846 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.723C>G (p.Pro241=) single nucleotide variant Acute intermittent porphyria [RCV001107358]|not provided [RCV002069758] Chr11:119092475 [GRCh38]
Chr11:118963185 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.223dup (p.Ser75fs) duplication not provided [RCV001227262] Chr11:119089225..119089226 [GRCh38]
Chr11:118959935..118959936 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.239A>G (p.Glu80Gly) single nucleotide variant not provided [RCV001054754] Chr11:119089245 [GRCh38]
Chr11:118959955 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NC_000011.10:g.(?_119088234)_(119093560_?)del deletion not provided [RCV001031341] Chr11:118958944..118964270 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.663C>T (p.Gly221=) single nucleotide variant not provided [RCV000957010] Chr11:119092415 [GRCh38]
Chr11:118963125 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.345-10C>T single nucleotide variant not provided [RCV000912453] Chr11:119089980 [GRCh38]
Chr11:118960690 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.754G>C (p.Ala252Pro) single nucleotide variant not provided [RCV002254508] Chr11:119092506 [GRCh38]
Chr11:118963216 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3(chr11:118280670-119650105)x3 copy number gain not provided [RCV001006451] Chr11:118280670..119650105 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.364G>C (p.Ala122Pro) single nucleotide variant Acute intermittent porphyria [RCV001171316] Chr11:119090009 [GRCh38]
Chr11:118960719 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.798C>T (p.Ala266=) single nucleotide variant Acute intermittent porphyria [RCV001108006]|not provided [RCV002069764] Chr11:119092784 [GRCh38]
Chr11:118963494 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.889G>T (p.Ala297Ser) single nucleotide variant Acute intermittent porphyria [RCV001108008] Chr11:119092998 [GRCh38]
Chr11:118963708 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.925C>T (p.Pro309Ser) single nucleotide variant Acute intermittent porphyria [RCV001108009]|not provided [RCV001593271] Chr11:119093122 [GRCh38]
Chr11:118963832 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_000190.4(HMBS):c.974G>A (p.Arg325Gln) single nucleotide variant Acute intermittent porphyria [RCV001102782]|not provided [RCV005093490] Chr11:119093171 [GRCh38]
Chr11:118963881 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.*153G>A single nucleotide variant Acute intermittent porphyria [RCV001102783] Chr11:119093436 [GRCh38]
Chr11:118964146 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele deletion Short stature [RCV001003892] Chr11:114433313..131230466 [GRCh37]
Chr11:11q23.2-25		 likely pathogenic
NM_000190.4(HMBS):c.498+99T>C single nucleotide variant not provided [RCV001681209] Chr11:119090364 [GRCh38]
Chr11:118961074 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.771+58C>T single nucleotide variant not provided [RCV001681619] Chr11:119092581 [GRCh38]
Chr11:118963291 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.651+2T>C single nucleotide variant not provided [RCV001214697] Chr11:119092165 [GRCh38]
Chr11:118962875 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.706G>A (p.Gly236Ser) single nucleotide variant not provided [RCV001048773] Chr11:119092458 [GRCh38]
Chr11:118963168 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.613-1G>T single nucleotide variant not provided [RCV001048960] Chr11:119092124 [GRCh38]
Chr11:118962834 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.13G>A (p.Gly5Ser) single nucleotide variant Acute intermittent porphyria [RCV001198784] Chr11:119085046 [GRCh38]
Chr11:118955756 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.839G>A (p.Gly280Glu) single nucleotide variant not provided [RCV001042800] Chr11:119092948 [GRCh38]
Chr11:118963658 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000011.9:g.(?_118895600)_(118972385_?)dup duplication Glucose-6-phosphate transport defect [RCV001031316] Chr11:118895600..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.753G>T (p.Arg251Ser) single nucleotide variant not provided [RCV001216096] Chr11:119092505 [GRCh38]
Chr11:118963215 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.768C>A (p.His256Gln) single nucleotide variant Acute intermittent porphyria [RCV001108005]|not provided [RCV001862867] Chr11:119092520 [GRCh38]
Chr11:118963230 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.885G>A (p.Met295Ile) single nucleotide variant Acute intermittent porphyria [RCV001108007]|not provided [RCV001856441] Chr11:119092994 [GRCh38]
Chr11:118963704 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.913-8T>G single nucleotide variant not provided [RCV001245799] Chr11:119093102 [GRCh38]
Chr11:118963812 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NC_000011.10:g.(?_119084613)_(119085735_?)del deletion not provided [RCV001031698] Chr11:118955323..118956445 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.33+2T>G single nucleotide variant not provided [RCV001214889] Chr11:119085068 [GRCh38]
Chr11:118955778 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.77G>C (p.Arg26Pro) single nucleotide variant not provided [RCV001216002] Chr11:119088298 [GRCh38]
Chr11:118959008 [GRCh37]
Chr11:11q23.3		 likely pathogenic|uncertain significance
NM_000190.4(HMBS):c.982_994del (p.Gln328fs) deletion not provided [RCV001214808] Chr11:119093175..119093187 [GRCh38]
Chr11:118963885..118963897 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.671T>C (p.Val224Ala) single nucleotide variant Anxiety [RCV001332262] Chr11:119092423 [GRCh38]
Chr11:118963133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.584G>A (p.Arg195His) single nucleotide variant Acute intermittent porphyria [RCV001797850]|not provided [RCV001756625] Chr11:119091498 [GRCh38]
Chr11:118962208 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117856768)_(118972385_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV001313154]|Glucose-6-phosphate transport defect [RCV001031254]|Immunodeficiency 18 [RCV001338286]|Immunodeficiency 19 [RCV001322413]|Inflammatory bowel disease 28 [RCV001304384] Chr11:117856768..118972385 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+3A>G single nucleotide variant not provided [RCV001297646] Chr11:119092166 [GRCh38]
Chr11:118962876 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.210+1G>C single nucleotide variant Acute intermittent porphyria [RCV001786486] Chr11:119089132 [GRCh38]
Chr11:118959842 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.287C>A (p.Ser96Tyr) single nucleotide variant not provided [RCV001362571] Chr11:119089703 [GRCh38]
Chr11:118960413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.380C>A (p.Pro127Gln) single nucleotide variant Inborn genetic diseases [RCV004034447]|not provided [RCV001355467] Chr11:119090025 [GRCh38]
Chr11:118960735 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NC_000011.9:g.(?_118007722)_(119170511_?)del deletion Long QT syndrome 10 [RCV001309948] Chr11:118007722..119170511 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.926C>G (p.Pro309Arg) single nucleotide variant not provided [RCV001307970] Chr11:119093123 [GRCh38]
Chr11:118963833 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.193G>C (p.Asp65His) single nucleotide variant not provided [RCV001340297] Chr11:119089114 [GRCh38]
Chr11:118959824 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.502_503delinsAA (p.Gly168Lys) indel not provided [RCV001369631] Chr11:119091416..119091417 [GRCh38]
Chr11:118962126..118962127 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.148C>T (p.Gln50Ter) single nucleotide variant not provided [RCV001389643] Chr11:119088695 [GRCh38]
Chr11:118959405 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.912+2T>C single nucleotide variant not provided [RCV001389656] Chr11:119093023 [GRCh38]
Chr11:118963733 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.866_869dup (p.Ser290delinsArgTer) duplication not provided [RCV001390086] Chr11:119092972..119092973 [GRCh38]
Chr11:118963682..118963683 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.10:g.119084604G>A single nucleotide variant not provided [RCV001518455] Chr11:119084604 [GRCh38]
Chr11:118955314 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.613-31A>G single nucleotide variant not provided [RCV001522042] Chr11:119092094 [GRCh38]
Chr11:118962804 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.713T>C (p.Leu238Pro) single nucleotide variant not provided [RCV001387139] Chr11:119092465 [GRCh38]
Chr11:118963175 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.423-1G>A single nucleotide variant not provided [RCV001387320] Chr11:119090189 [GRCh38]
Chr11:118960899 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.982_983del (p.Gln328fs) deletion not provided [RCV001384054] Chr11:119093179..119093180 [GRCh38]
Chr11:118963889..118963890 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.562del (p.Leu188fs) deletion not provided [RCV001386727] Chr11:119091475 [GRCh38]
Chr11:118962185 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.963dup (p.Asn322Ter) duplication not provided [RCV001382069] Chr11:119093159..119093160 [GRCh38]
Chr11:118963869..118963870 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.973C>T (p.Arg325Ter) single nucleotide variant Acute intermittent porphyria [RCV002246365]|not provided [RCV001382070] Chr11:119093170 [GRCh38]
Chr11:118963880 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.912+19G>A single nucleotide variant not provided [RCV001512432] Chr11:119093040 [GRCh38]
Chr11:118963750 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.124T>C (p.Leu42=) single nucleotide variant not provided [RCV001466733] Chr11:119088671 [GRCh38]
Chr11:118959381 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.88-65T>C single nucleotide variant not provided [RCV001654226] Chr11:119088570 [GRCh38]
Chr11:118959280 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.57_58del (p.Arg19fs) microsatellite not provided [RCV001386765] Chr11:119088275..119088276 [GRCh38]
Chr11:118958985..118958986 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.655G>C (p.Ala219Pro) single nucleotide variant not provided [RCV001379269] Chr11:119092407 [GRCh38]
Chr11:118963117 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic|conflicting interpretations of pathogenicity
NC_000011.10:g.119084613G>A single nucleotide variant HMBS-related disorder [RCV003980497]|not provided [RCV001512433] Chr11:119084613 [GRCh38]
Chr11:118955323 [GRCh37]
Chr11:11q23.3		 benign
NC_000011.9:g.104288964_134937416dup duplication Distal trisomy 11q [RCV001250234] Chr11:104288964..134937416 [GRCh37]
Chr11:11q22.3-25		 pathogenic
NM_000190.4(HMBS):c.624T>C (p.Pro208=) single nucleotide variant not provided [RCV003109184] Chr11:119092136 [GRCh38]
Chr11:118962846 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.9:g.(?_116691583)_(121500272_?)dup duplication Combined immunodeficiency due to CD3gamma deficiency [RCV003119252]|Immunodeficiency 18 [RCV003109226]|Immunodeficiency 19 [RCV003109224]|Inflammatory bowel disease 28 [RCV003109225]|Isolated microphthalmia 5 [RCV003119251]|RASopathy [RCV003119250] Chr11:116691583..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000190.4(HMBS):c.825+3_825+6del microsatellite not provided [RCV001756626] Chr11:119092810..119092813 [GRCh38]
Chr11:118963520..118963523 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.412C>A (p.Pro138Thr) single nucleotide variant not provided [RCV001768640] Chr11:119090057 [GRCh38]
Chr11:118960767 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.67G>A (p.Val23Met) single nucleotide variant HMBS-related disorder [RCV003968534]|not provided [RCV001765671]|not specified [RCV003401688] Chr11:119088288 [GRCh38]
Chr11:118958998 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.211-1G>T single nucleotide variant Acute intermittent porphyria [RCV001789607] Chr11:119089216 [GRCh38]
Chr11:118959926 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.232A>T (p.Thr78Ser) single nucleotide variant Acute intermittent porphyria [RCV001809124] Chr11:119089238 [GRCh38]
Chr11:118959948 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.64C>T (p.Arg22Cys) single nucleotide variant Acute intermittent porphyria [RCV001809135]|not provided [RCV001869594] Chr11:119088285 [GRCh38]
Chr11:118958995 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.176C>T (p.Thr59Ile) single nucleotide variant not provided [RCV002041322] Chr11:119089097 [GRCh38]
Chr11:118959807 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.947T>C (p.Val316Ala) single nucleotide variant not provided [RCV001983429] Chr11:119093144 [GRCh38]
Chr11:118963854 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.492G>T (p.Arg164Ser) single nucleotide variant not provided [RCV001929614]|not specified [RCV004587258] Chr11:119090259 [GRCh38]
Chr11:118960969 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912G>A (p.Gln304=) single nucleotide variant not provided [RCV001874426] Chr11:119093021 [GRCh38]
Chr11:118963731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.87+1G>A single nucleotide variant not provided [RCV001949413] Chr11:119088309 [GRCh38]
Chr11:118959019 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.419A>G (p.Lys140Arg) single nucleotide variant not provided [RCV001892224] Chr11:119090064 [GRCh38]
Chr11:118960774 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.490A>G (p.Arg164Gly) single nucleotide variant not provided [RCV001891480] Chr11:119090257 [GRCh38]
Chr11:118960967 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.691A>G (p.Ile231Val) single nucleotide variant not provided [RCV001965358] Chr11:119092443 [GRCh38]
Chr11:118963153 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.597C>A (p.His199Gln) single nucleotide variant not provided [RCV001985504] Chr11:119091511 [GRCh38]
Chr11:118962221 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.499-10C>G single nucleotide variant not provided [RCV001946339] Chr11:119091403 [GRCh38]
Chr11:118962113 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.184A>G (p.Lys62Glu) single nucleotide variant not provided [RCV001892228] Chr11:119089105 [GRCh38]
Chr11:118959815 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.940C>T (p.Gln314Ter) single nucleotide variant not provided [RCV001982922] Chr11:119093137 [GRCh38]
Chr11:118963847 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.572C>T (p.Ala191Val) single nucleotide variant not provided [RCV001912510] Chr11:119091486 [GRCh38]
Chr11:118962196 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.826-1G>A single nucleotide variant not provided [RCV001949416] Chr11:119092934 [GRCh38]
Chr11:118963644 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.211-5G>A single nucleotide variant not provided [RCV001891052] Chr11:119089212 [GRCh38]
Chr11:118959922 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+16G>T single nucleotide variant not provided [RCV001928585] Chr11:119092179 [GRCh38]
Chr11:118962889 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.605_612+7del deletion not provided [RCV001966828] Chr11:119091519..119091533 [GRCh38]
Chr11:118962229..118962243 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NC_000011.10:g.119084703C>T single nucleotide variant not provided [RCV001948697] Chr11:119084703 [GRCh38]
Chr11:118955413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.668A>G (p.Glu223Gly) single nucleotide variant not provided [RCV002042722] Chr11:119092420 [GRCh38]
Chr11:118963130 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1063C>T (p.Arg355Trp) single nucleotide variant Acute intermittent porphyria [RCV001837235]|not provided [RCV002542799] Chr11:119093260 [GRCh38]
Chr11:118963970 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3 copy number gain not provided [RCV001829187] Chr11:112375478..128785742 [GRCh37]
Chr11:11q23.1-24.3		 pathogenic
NM_000190.4(HMBS):c.404A>G (p.Glu135Gly) single nucleotide variant not provided [RCV001913025] Chr11:119090049 [GRCh38]
Chr11:118960759 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119084703C>G single nucleotide variant not provided [RCV001912343] Chr11:119084703 [GRCh38]
Chr11:118955413 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.379C>G (p.Pro127Ala) single nucleotide variant not provided [RCV001965636] Chr11:119090024 [GRCh38]
Chr11:118960734 [GRCh37]
Chr11:11q23.3		 uncertain significance
GRCh37/hg19 11q23.3(chr11:118849155-119067781)x3 copy number gain not provided [RCV001836501] Chr11:118849155..119067781 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.724G>A (p.Glu242Lys) single nucleotide variant Acute intermittent porphyria [RCV002507584]|not provided [RCV001943901] Chr11:119092476 [GRCh38]
Chr11:118963186 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.88-3C>T single nucleotide variant not provided [RCV001884130] Chr11:119088632 [GRCh38]
Chr11:118959342 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1004G>T (p.Gly335Val) single nucleotide variant not provided [RCV001962401] Chr11:119093201 [GRCh38]
Chr11:118963911 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.643G>C (p.Val215Leu) single nucleotide variant not provided [RCV002001246] Chr11:119092155 [GRCh38]
Chr11:118962865 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.266+1G>A single nucleotide variant not provided [RCV001963000] Chr11:119089273 [GRCh38]
Chr11:118959983 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.224G>A (p.Ser75Asn) single nucleotide variant not provided [RCV002019787] Chr11:119089230 [GRCh38]
Chr11:118959940 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.959C>T (p.Ala320Val) single nucleotide variant not provided [RCV001875106] Chr11:119093156 [GRCh38]
Chr11:118963866 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.266+4A>T single nucleotide variant Acute intermittent porphyria [RCV004763315]|not provided [RCV002018360] Chr11:119089276 [GRCh38]
Chr11:118959986 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.498+1G>A single nucleotide variant not provided [RCV001962117] Chr11:119090266 [GRCh38]
Chr11:118960976 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.342C>T (p.Cys114=) single nucleotide variant not provided [RCV001925275] Chr11:119089758 [GRCh38]
Chr11:118960468 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.160+1G>T single nucleotide variant not provided [RCV002000121] Chr11:119088708 [GRCh38]
Chr11:118959418 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.825+1G>A single nucleotide variant not provided [RCV002000128] Chr11:119092812 [GRCh38]
Chr11:118963522 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.652-1G>C single nucleotide variant not provided [RCV001958670] Chr11:119092403 [GRCh38]
Chr11:118963113 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.10:g.119084594_119084607del deletion not provided [RCV001907068] Chr11:119084593..119084606 [GRCh38]
Chr11:118955303..118955316 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.344+4A>G single nucleotide variant not provided [RCV001875746] Chr11:119089764 [GRCh38]
Chr11:118960474 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.844G>C (p.Val282Leu) single nucleotide variant not provided [RCV001991790] Chr11:119092953 [GRCh38]
Chr11:118963663 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_001258208.2(HMBS):c.651+244del deletion not provided [RCV001943244] Chr11:119092403 [GRCh38]
Chr11:118963113 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.664G>A (p.Val222Met) single nucleotide variant not provided [RCV001920005] Chr11:119092416 [GRCh38]
Chr11:118963126 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1081dup (p.His361fs) duplication not provided [RCV001878482] Chr11:119093275..119093276 [GRCh38]
Chr11:118963985..118963986 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118955589)_(118955796_?)del deletion not provided [RCV001951451] Chr11:118955589..118955796 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.538C>T (p.Gln180Ter) single nucleotide variant not provided [RCV001975096] Chr11:119091452 [GRCh38]
Chr11:118962162 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.901G>A (p.Val301Ile) single nucleotide variant not provided [RCV001989603] Chr11:119093010 [GRCh38]
Chr11:118963720 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.661G>A (p.Gly221Ser) single nucleotide variant not provided [RCV001922308] Chr11:119092413 [GRCh38]
Chr11:118963123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.745G>A (p.Ala249Thr) single nucleotide variant not provided [RCV001917788]|not specified [RCV003401855] Chr11:119092497 [GRCh38]
Chr11:118963207 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.500G>C (p.Arg167Pro) single nucleotide variant Acute intermittent porphyria [RCV005042682]|not provided [RCV002017727] Chr11:119091414 [GRCh38]
Chr11:118962124 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.283del (p.His95fs) deletion not provided [RCV001906487] Chr11:119089699 [GRCh38]
Chr11:118960409 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.913-3_913-2del deletion not provided [RCV002009587] Chr11:119093106..119093107 [GRCh38]
Chr11:118963816..118963817 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.87+2T>G single nucleotide variant not provided [RCV001956187] Chr11:119088310 [GRCh38]
Chr11:118959020 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.623del (p.Pro208fs) deletion not provided [RCV001958751] Chr11:119092133 [GRCh38]
Chr11:118962843 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.314dup (p.Pro106fs) duplication not provided [RCV001953708] Chr11:119089728..119089729 [GRCh38]
Chr11:118960438..118960439 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.422+5G>C single nucleotide variant not provided [RCV001938772] Chr11:119090072 [GRCh38]
Chr11:118960782 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_116660844)_(121500272_?)dup duplication not provided [RCV003107886] Chr11:116660844..121500272 [GRCh37]
Chr11:11q23.3-24.1		 uncertain significance
NM_000190.4(HMBS):c.523C>T (p.Arg175Trp) single nucleotide variant not provided [RCV002030329] Chr11:119091437 [GRCh38]
Chr11:118962147 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118007742)_(119170491_?)dup duplication Atrial fibrillation, familial, 14 [RCV004580292] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.872T>C (p.Ile291Thr) single nucleotide variant not provided [RCV001973703] Chr11:119092981 [GRCh38]
Chr11:118963691 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.209A>G (p.Lys70Arg) single nucleotide variant not provided [RCV002028065] Chr11:119089130 [GRCh38]
Chr11:118959840 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.65G>A (p.Arg22His) single nucleotide variant Acute intermittent porphyria [RCV004796696]|not provided [RCV001959394]|not specified [RCV003401983] Chr11:119088286 [GRCh38]
Chr11:118958996 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.396G>C (p.Lys132Asn) single nucleotide variant not provided [RCV002018642] Chr11:119090041 [GRCh38]
Chr11:118960751 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.292A>G (p.Lys98Glu) single nucleotide variant not provided [RCV002018786] Chr11:119089708 [GRCh38]
Chr11:118960418 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.648C>T (p.Gly216=) single nucleotide variant not provided [RCV002031450] Chr11:119092160 [GRCh38]
Chr11:118962870 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.524G>A (p.Arg175Gln) single nucleotide variant not provided [RCV001898915] Chr11:119091438 [GRCh38]
Chr11:118962148 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.211-6C>T single nucleotide variant not provided [RCV001958437] Chr11:119089211 [GRCh38]
Chr11:118959921 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.87+2_87+4del deletion not provided [RCV002013645] Chr11:119088308..119088310 [GRCh38]
Chr11:118959018..118959020 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.806C>T (p.Thr269Ile) single nucleotide variant not provided [RCV001918261] Chr11:119092792 [GRCh38]
Chr11:118963502 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.390T>G (p.Val130=) single nucleotide variant not provided [RCV002128585] Chr11:119090035 [GRCh38]
Chr11:118960745 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.615C>T (p.Ile205=) single nucleotide variant not provided [RCV002190603] Chr11:119092127 [GRCh38]
Chr11:118962837 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.266+17G>A single nucleotide variant not provided [RCV002207243] Chr11:119089289 [GRCh38]
Chr11:118959999 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.744C>T (p.Ile248=) single nucleotide variant not provided [RCV002110294] Chr11:119092496 [GRCh38]
Chr11:118963206 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.529C>T (p.Leu177=) single nucleotide variant not provided [RCV002086466] Chr11:119091443 [GRCh38]
Chr11:118962153 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.498+15G>T single nucleotide variant not provided [RCV002111901] Chr11:119090280 [GRCh38]
Chr11:118960990 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.211-15C>T single nucleotide variant not provided [RCV002129661] Chr11:119089202 [GRCh38]
Chr11:118959912 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.75C>T (p.Thr25=) single nucleotide variant not provided [RCV002167191]|not specified [RCV003987961] Chr11:119088296 [GRCh38]
Chr11:118959006 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.181G>T (p.Asp61Tyr) single nucleotide variant Acute intermittent porphyria [RCV002225205] Chr11:119089102 [GRCh38]
Chr11:118959812 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.825+7G>T single nucleotide variant not provided [RCV002186816] Chr11:119092818 [GRCh38]
Chr11:118963528 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+8C>T single nucleotide variant not provided [RCV002174431] Chr11:119091534 [GRCh38]
Chr11:118962244 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.736C>T (p.Arg246Cys) single nucleotide variant not provided [RCV002197184] Chr11:119092488 [GRCh38]
Chr11:118963198 [GRCh37]
Chr11:11q23.3		 likely benign|conflicting interpretations of pathogenicity
NM_000190.4(HMBS):c.612+13C>A single nucleotide variant not provided [RCV002077543] Chr11:119091539 [GRCh38]
Chr11:118962249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.772-16del deletion not provided [RCV002192647] Chr11:119092742 [GRCh38]
Chr11:118963452 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.267-17C>T single nucleotide variant not provided [RCV002124741] Chr11:119089666 [GRCh38]
Chr11:118960376 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.33+20C>G single nucleotide variant not provided [RCV002171711] Chr11:119085086 [GRCh38]
Chr11:118955796 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.912+18C>T single nucleotide variant not provided [RCV002134220] Chr11:119093039 [GRCh38]
Chr11:118963749 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+17G>T single nucleotide variant not provided [RCV002133414] Chr11:119092828 [GRCh38]
Chr11:118963538 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.913-16T>C single nucleotide variant not provided [RCV002080146] Chr11:119093094 [GRCh38]
Chr11:118963804 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.66C>T (p.Arg22=) single nucleotide variant not provided [RCV002096844] Chr11:119088287 [GRCh38]
Chr11:118958997 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.651+19G>A single nucleotide variant not provided [RCV002207127] Chr11:119092182 [GRCh38]
Chr11:118962892 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.34-16G>A single nucleotide variant not provided [RCV002192355] Chr11:119088239 [GRCh38]
Chr11:118958949 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.442C>T (p.Leu148=) single nucleotide variant not provided [RCV002150801] Chr11:119090209 [GRCh38]
Chr11:118960919 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.33+15G>A single nucleotide variant not provided [RCV002101565]|not specified [RCV003491044] Chr11:119085081 [GRCh38]
Chr11:118955791 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+17G>A single nucleotide variant not provided [RCV002135656] Chr11:119093038 [GRCh38]
Chr11:118963748 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.613-31_613-30inv inversion not provided [RCV002158248] Chr11:119092094..119092095 [GRCh38]
Chr11:118962804..118962805 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.267-18C>A single nucleotide variant not provided [RCV002143544] Chr11:119089665 [GRCh38]
Chr11:118960375 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+11C>T single nucleotide variant not provided [RCV002120830] Chr11:119091537 [GRCh38]
Chr11:118962247 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.42C>T (p.Asn14=) single nucleotide variant not provided [RCV002201378] Chr11:119088263 [GRCh38]
Chr11:118958973 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+16A>G single nucleotide variant not provided [RCV002119412] Chr11:119091542 [GRCh38]
Chr11:118962252 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.87+13G>T single nucleotide variant not provided [RCV002138406] Chr11:119088321 [GRCh38]
Chr11:118959031 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.924C>T (p.Gly308=) single nucleotide variant not provided [RCV002123789] Chr11:119093121 [GRCh38]
Chr11:118963831 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+15T>A single nucleotide variant not provided [RCV002219793] Chr11:119091541 [GRCh38]
Chr11:118962251 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.772-7G>C single nucleotide variant not provided [RCV002158871] Chr11:119092751 [GRCh38]
Chr11:118963461 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.31G>A (p.Ala11Thr) single nucleotide variant not provided [RCV002180348] Chr11:119085064 [GRCh38]
Chr11:118955774 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+11C>G single nucleotide variant not provided [RCV002219792] Chr11:119091537 [GRCh38]
Chr11:118962247 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.461T>C (p.Leu154Pro) single nucleotide variant not provided [RCV003112235] Chr11:119090228 [GRCh38]
Chr11:118960938 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_118955303)_(118956445_?)dup duplication not provided [RCV003122150] Chr11:118955303..118956445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.9:g.(?_117209303)_(120133495_?)dup duplication not provided [RCV003122151] Chr11:117209303..120133495 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.896T>C (p.Ile299Thr) single nucleotide variant not provided [RCV002261930] Chr11:119093005 [GRCh38]
Chr11:118963715 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912+1G>C single nucleotide variant Acute intermittent porphyria [RCV002293282] Chr11:119093022 [GRCh38]
Chr11:118963732 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.854T>G (p.Leu285Arg) single nucleotide variant not provided [RCV002469595] Chr11:119092963 [GRCh38]
Chr11:118963673 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.741C>G (p.Cys247Trp) single nucleotide variant not provided [RCV003230010] Chr11:119092493 [GRCh38]
Chr11:118963203 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.944T>C (p.Leu315Ser) single nucleotide variant not provided [RCV002305218] Chr11:119093141 [GRCh38]
Chr11:118963851 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.344+33G>T single nucleotide variant HMBS-related disorder [RCV003926401]|not provided [RCV002511716] Chr11:119089793 [GRCh38]
Chr11:118960503 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.577C>T (p.Leu193=) single nucleotide variant not provided [RCV002968124] Chr11:119091491 [GRCh38]
Chr11:118962201 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.961C>T (p.Arg321Cys) single nucleotide variant not provided [RCV002775901] Chr11:119093158 [GRCh38]
Chr11:118963868 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.936C>T (p.Asp312=) single nucleotide variant not provided [RCV002880283] Chr11:119093133 [GRCh38]
Chr11:118963843 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.771+7C>T single nucleotide variant not provided [RCV002775588] Chr11:119092530 [GRCh38]
Chr11:118963240 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.267-18C>T single nucleotide variant not provided [RCV002991849] Chr11:119089665 [GRCh38]
Chr11:118960375 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.692T>C (p.Ile231Thr) single nucleotide variant not provided [RCV002975150] Chr11:119092444 [GRCh38]
Chr11:118963154 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.969T>C (p.Ile323=) single nucleotide variant not provided [RCV002755572] Chr11:119093166 [GRCh38]
Chr11:118963876 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.348G>C (p.Arg116=) single nucleotide variant not provided [RCV002861977] Chr11:119089993 [GRCh38]
Chr11:118960703 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+5C>T single nucleotide variant not provided [RCV002617282] Chr11:119093026 [GRCh38]
Chr11:118963736 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.694T>G (p.Leu232Val) single nucleotide variant not provided [RCV002819853] Chr11:119092446 [GRCh38]
Chr11:118963156 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.993C>G (p.Ala331=) single nucleotide variant not provided [RCV003014653] Chr11:119093190 [GRCh38]
Chr11:118963900 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+11G>A single nucleotide variant not provided [RCV002755185] Chr11:119092822 [GRCh38]
Chr11:118963532 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+12G>T single nucleotide variant not provided [RCV002750338] Chr11:119092823 [GRCh38]
Chr11:118963533 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.978G>C (p.Gly326=) single nucleotide variant not provided [RCV002617513] Chr11:119093175 [GRCh38]
Chr11:118963885 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.596A>G (p.His199Arg) single nucleotide variant not provided [RCV002838082] Chr11:119091510 [GRCh38]
Chr11:118962220 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.913-11C>T single nucleotide variant not provided [RCV002972309] Chr11:119093099 [GRCh38]
Chr11:118963809 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.474C>T (p.Phe158=) single nucleotide variant not provided [RCV002839437] Chr11:119090241 [GRCh38]
Chr11:118960951 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.29C>T (p.Thr10Met) single nucleotide variant not provided [RCV002967423] Chr11:119085062 [GRCh38]
Chr11:118955772 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1040C>A (p.Ala347Asp) single nucleotide variant not provided [RCV003032424] Chr11:119093237 [GRCh38]
Chr11:118963947 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.825+3A>G single nucleotide variant not provided [RCV002740113] Chr11:119092814 [GRCh38]
Chr11:118963524 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.690C>T (p.Asp230=) single nucleotide variant not provided [RCV002797300] Chr11:119092442 [GRCh38]
Chr11:118963152 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.248A>G (p.His83Arg) single nucleotide variant not provided [RCV002640148] Chr11:119089254 [GRCh38]
Chr11:118959964 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.34-3C>T single nucleotide variant not provided [RCV002571796] Chr11:119088252 [GRCh38]
Chr11:118958962 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.84C>T (p.Ser28=) single nucleotide variant not provided [RCV002659152] Chr11:119088305 [GRCh38]
Chr11:118959015 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.422G>A (p.Ser141Asn) single nucleotide variant not provided [RCV002639077] Chr11:119090067 [GRCh38]
Chr11:118960777 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.94C>T (p.Arg32Cys) single nucleotide variant not provided [RCV002570191] Chr11:119088641 [GRCh38]
Chr11:118959351 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.613-11C>T single nucleotide variant not provided [RCV002621588] Chr11:119092114 [GRCh38]
Chr11:118962824 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.569C>T (p.Thr190Ile) single nucleotide variant HMBS-related disorder [RCV003403993]|not provided [RCV002979371] Chr11:119091483 [GRCh38]
Chr11:118962193 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.423-18T>C single nucleotide variant not provided [RCV002659233] Chr11:119090172 [GRCh38]
Chr11:118960882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.95G>A (p.Arg32His) single nucleotide variant not provided [RCV002690622] Chr11:119088642 [GRCh38]
Chr11:118959352 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.962G>C (p.Arg321Pro) single nucleotide variant not provided [RCV002780344] Chr11:119093159 [GRCh38]
Chr11:118963869 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.246del (p.Glu82fs) deletion not provided [RCV002866946] Chr11:119089251 [GRCh38]
Chr11:118959961 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.423-14T>C single nucleotide variant not provided [RCV002870812] Chr11:119090176 [GRCh38]
Chr11:118960886 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.253C>T (p.Leu85=) single nucleotide variant not provided [RCV002736032] Chr11:119089259 [GRCh38]
Chr11:118959969 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.390T>C (p.Val130=) single nucleotide variant not provided [RCV002761308] Chr11:119090035 [GRCh38]
Chr11:118960745 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.826-1G>T single nucleotide variant not provided [RCV002846803] Chr11:119092934 [GRCh38]
Chr11:118963644 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.849G>C (p.Trp283Cys) single nucleotide variant not provided [RCV003036632] Chr11:119092958 [GRCh38]
Chr11:118963668 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.328A>G (p.Ile110Val) single nucleotide variant not provided [RCV002690744] Chr11:119089744 [GRCh38]
Chr11:118960454 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1064G>A (p.Arg355Gln) single nucleotide variant not provided [RCV003079138] Chr11:119093261 [GRCh38]
Chr11:118963971 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.422+16A>G single nucleotide variant not provided [RCV002700129] Chr11:119090083 [GRCh38]
Chr11:118960793 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.166A>G (p.Met56Val) single nucleotide variant not provided [RCV003085357] Chr11:119089087 [GRCh38]
Chr11:118959797 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912+6A>G single nucleotide variant not provided [RCV002851957] Chr11:119093027 [GRCh38]
Chr11:118963737 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.124T>A (p.Leu42Met) single nucleotide variant not provided [RCV002596985] Chr11:119088671 [GRCh38]
Chr11:118959381 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+16G>A single nucleotide variant not provided [RCV002576292] Chr11:119092179 [GRCh38]
Chr11:118962889 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.498T>C (p.Ile166=) single nucleotide variant not provided [RCV003085126] Chr11:119090265 [GRCh38]
Chr11:118960975 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.345-5C>A single nucleotide variant not provided [RCV003043374] Chr11:119089985 [GRCh38]
Chr11:118960695 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.653G>A (p.Gly218Glu) single nucleotide variant not provided [RCV002871765] Chr11:119092405 [GRCh38]
Chr11:118963115 [GRCh37]
Chr11:11q23.3		 pathogenic|uncertain significance
NM_000190.4(HMBS):c.1085A>G (p.Ter362=) single nucleotide variant not provided [RCV002710735] Chr11:119093282 [GRCh38]
Chr11:118963992 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.1010G>C (p.Ser337Thr) single nucleotide variant not provided [RCV003057223] Chr11:119093207 [GRCh38]
Chr11:118963917 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.56G>C (p.Arg19Thr) single nucleotide variant not provided [RCV003039815] Chr11:119088277 [GRCh38]
Chr11:118958987 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.362A>T (p.Asp121Val) single nucleotide variant not provided [RCV003042198] Chr11:119090007 [GRCh38]
Chr11:118960717 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.228G>C (p.Leu76=) single nucleotide variant not provided [RCV002594110] Chr11:119089234 [GRCh38]
Chr11:118959944 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.25G>A (p.Ala9Thr) single nucleotide variant not provided [RCV003057512] Chr11:119085058 [GRCh38]
Chr11:118955768 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.879dup (p.Thr294fs) duplication not provided [RCV002871824] Chr11:119092987..119092988 [GRCh38]
Chr11:118963697..118963698 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.676G>A (p.Ala226Thr) single nucleotide variant not provided [RCV002932359] Chr11:119092428 [GRCh38]
Chr11:118963138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.35A>C (p.Glu12Ala) single nucleotide variant not provided [RCV002766335]|not specified [RCV004700825] Chr11:119088256 [GRCh38]
Chr11:118958966 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+669A>G single nucleotide variant not provided [RCV003058355] Chr11:119085735 [GRCh38]
Chr11:118956445 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.22G>A (p.Ala8Thr) single nucleotide variant Inborn genetic diseases [RCV002986633] Chr11:119085055 [GRCh38]
Chr11:118955765 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.87+16G>A single nucleotide variant not provided [RCV002711560] Chr11:119088324 [GRCh38]
Chr11:118959034 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1043A>G (p.Lys348Arg) single nucleotide variant not provided [RCV003040378] Chr11:119093240 [GRCh38]
Chr11:118963950 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.851G>A (p.Ser284Asn) single nucleotide variant not provided [RCV002575405] Chr11:119092960 [GRCh38]
Chr11:118963670 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+8C>G single nucleotide variant not provided [RCV002958594] Chr11:119085074 [GRCh38]
Chr11:118955784 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.33+9T>C single nucleotide variant not provided [RCV002626589] Chr11:119085075 [GRCh38]
Chr11:118955785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.786T>A (p.Ser262Arg) single nucleotide variant not provided [RCV003039671] Chr11:119092772 [GRCh38]
Chr11:118963482 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.773A>G (p.Glu258Gly) single nucleotide variant not provided [RCV003058356] Chr11:119092759 [GRCh38]
Chr11:118963469 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.345-3C>T single nucleotide variant not provided [RCV003007376] Chr11:119089987 [GRCh38]
Chr11:118960697 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.884T>C (p.Met295Thr) single nucleotide variant not provided [RCV003041597] Chr11:119092993 [GRCh38]
Chr11:118963703 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1077T>A (p.Asp359Glu) single nucleotide variant not provided [RCV002671790] Chr11:119093274 [GRCh38]
Chr11:118963984 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+10A>G single nucleotide variant not provided [RCV002721259] Chr11:119092173 [GRCh38]
Chr11:118962883 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.978G>A (p.Gly326=) single nucleotide variant not provided [RCV002811720] Chr11:119093175 [GRCh38]
Chr11:118963885 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+20C>T single nucleotide variant not provided [RCV002770795] Chr11:119092831 [GRCh38]
Chr11:118963541 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.422+4A>G single nucleotide variant not provided [RCV002721227] Chr11:119090071 [GRCh38]
Chr11:118960781 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.344+2T>C single nucleotide variant not provided [RCV003062463] Chr11:119089762 [GRCh38]
Chr11:118960472 [GRCh37]
Chr11:11q23.3		 pathogenic
NC_000011.10:g.119084600del deletion not provided [RCV003031443] Chr11:119084595 [GRCh38]
Chr11:118955305 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.161-20T>A single nucleotide variant not provided [RCV002600763] Chr11:119089062 [GRCh38]
Chr11:118959772 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.476C>T (p.Pro159Leu) single nucleotide variant not provided [RCV002577505] Chr11:119090243 [GRCh38]
Chr11:118960953 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.267-11C>T single nucleotide variant not provided [RCV002791992] Chr11:119089672 [GRCh38]
Chr11:118960382 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.358C>T (p.His120Tyr) single nucleotide variant not provided [RCV003027416] Chr11:119090003 [GRCh38]
Chr11:118960713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.71G>A (p.Gly24Asp) single nucleotide variant not provided [RCV003062461] Chr11:119088292 [GRCh38]
Chr11:118959002 [GRCh37]
Chr11:11q23.3		 likely pathogenic|conflicting interpretations of pathogenicity|uncertain significance
NM_000190.4(HMBS):c.1020del (p.Leu341fs) deletion not provided [RCV002833107] Chr11:119093217 [GRCh38]
Chr11:118963927 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.688G>T (p.Asp230Tyr) single nucleotide variant not provided [RCV003062465] Chr11:119092440 [GRCh38]
Chr11:118963150 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.335C>G (p.Ala112Gly) single nucleotide variant not provided [RCV002672149] Chr11:119089751 [GRCh38]
Chr11:118960461 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.4T>C (p.Ser2Pro) single nucleotide variant not provided [RCV002599395] Chr11:119085037 [GRCh38]
Chr11:118955747 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.237G>A (p.Lys79=) single nucleotide variant not provided [RCV002857119] Chr11:119089243 [GRCh38]
Chr11:118959953 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.214G>A (p.Gly72Arg) single nucleotide variant not provided [RCV002922536] Chr11:119089220 [GRCh38]
Chr11:118959930 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119084593G>A single nucleotide variant not provided [RCV002671870] Chr11:119084593 [GRCh38]
Chr11:118955303 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.852T>C (p.Ser284=) single nucleotide variant not provided [RCV003046300] Chr11:119092961 [GRCh38]
Chr11:118963671 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+12dup duplication not provided [RCV002962906] Chr11:119092817..119092818 [GRCh38]
Chr11:118963527..118963528 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.27A>G (p.Ala9=) single nucleotide variant not provided [RCV002791688] Chr11:119085060 [GRCh38]
Chr11:118955770 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.125T>C (p.Leu42Ser) single nucleotide variant not provided [RCV003062462] Chr11:119088672 [GRCh38]
Chr11:118959382 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.625G>A (p.Glu209Lys) single nucleotide variant not provided [RCV003062464] Chr11:119092137 [GRCh38]
Chr11:118962847 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.770dup (p.Glu258fs) duplication not provided [RCV003062466] Chr11:119092521..119092522 [GRCh38]
Chr11:118963231..118963232 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.485A>G (p.Glu162Gly) single nucleotide variant not provided [RCV002833803] Chr11:119090252 [GRCh38]
Chr11:118960962 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.88-5C>T single nucleotide variant not provided [RCV002579848] Chr11:119088630 [GRCh38]
Chr11:118959340 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.797C>G (p.Ala266Gly) single nucleotide variant not provided [RCV002578832] Chr11:119092783 [GRCh38]
Chr11:118963493 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912+3A>G single nucleotide variant not provided [RCV002671177] Chr11:119093024 [GRCh38]
Chr11:118963734 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.535G>A (p.Glu179Lys) single nucleotide variant not provided [RCV002650238] Chr11:119091449 [GRCh38]
Chr11:118962159 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.618G>A (p.Leu206=) single nucleotide variant not provided [RCV002671521] Chr11:119092130 [GRCh38]
Chr11:118962840 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.358C>A (p.His120Asn) single nucleotide variant not provided [RCV002962972] Chr11:119090003 [GRCh38]
Chr11:118960713 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+18G>A single nucleotide variant not provided [RCV002658010]|not specified [RCV004526203] Chr11:119085084 [GRCh38]
Chr11:118955794 [GRCh37]
Chr11:11q23.3		 likely benign|uncertain significance
NM_000190.4(HMBS):c.882C>T (p.Thr294=) single nucleotide variant not provided [RCV002721950] Chr11:119092991 [GRCh38]
Chr11:118963701 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.167T>C (p.Met56Thr) single nucleotide variant not provided [RCV003050826] Chr11:119089088 [GRCh38]
Chr11:118959798 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119084607G>T single nucleotide variant not provided [RCV002609292] Chr11:119084607 [GRCh38]
Chr11:118955317 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119084594T>G single nucleotide variant not provided [RCV002586665] Chr11:119084594 [GRCh38]
Chr11:118955304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.270G>A (p.Val90=) single nucleotide variant not provided [RCV002609613] Chr11:119089686 [GRCh38]
Chr11:118960396 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.826-20G>A single nucleotide variant not provided [RCV002653612] Chr11:119092915 [GRCh38]
Chr11:118963625 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.764G>A (p.Arg255Lys) single nucleotide variant not provided [RCV002608494] Chr11:119092516 [GRCh38]
Chr11:118963226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.613-10G>A single nucleotide variant not provided [RCV002606764] Chr11:119092115 [GRCh38]
Chr11:118962825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.87+15C>T single nucleotide variant not provided [RCV002586995] Chr11:119088323 [GRCh38]
Chr11:118959033 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.720T>C (p.Asp240=) single nucleotide variant not provided [RCV002725702] Chr11:119092472 [GRCh38]
Chr11:118963182 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.771+15C>T single nucleotide variant not provided [RCV002608725] Chr11:119092538 [GRCh38]
Chr11:118963248 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.267-17C>A single nucleotide variant not provided [RCV002587214] Chr11:119089666 [GRCh38]
Chr11:118960376 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+7A>T single nucleotide variant not provided [RCV002612995] Chr11:119093028 [GRCh38]
Chr11:118963738 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1054G>A (p.Asp352Asn) single nucleotide variant not provided [RCV003069618] Chr11:119093251 [GRCh38]
Chr11:118963961 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.859G>A (p.Gly287Ser) single nucleotide variant not provided [RCV002658154] Chr11:119092968 [GRCh38]
Chr11:118963678 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.772-10_772-8del microsatellite not provided [RCV002612622] Chr11:119092745..119092747 [GRCh38]
Chr11:118963455..118963457 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.88-4G>A single nucleotide variant not provided [RCV002943480] Chr11:119088631 [GRCh38]
Chr11:118959341 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.767A>G (p.His256Arg) single nucleotide variant not provided [RCV003154412] Chr11:119092519 [GRCh38]
Chr11:118963229 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.580C>T (p.Gln194Ter) single nucleotide variant Acute intermittent porphyria [RCV003319952] Chr11:119091494 [GRCh38]
Chr11:118962204 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.492_494del (p.Arg164del) deletion not provided [RCV003330017] Chr11:119090257..119090259 [GRCh38]
Chr11:118960967..118960969 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.689A>G (p.Asp230Gly) single nucleotide variant not provided [RCV003329716] Chr11:119092441 [GRCh38]
Chr11:118963151 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.277_291del (p.Val93_Leu97del) deletion Acute intermittent porphyria [RCV003338067] Chr11:119089691..119089705 [GRCh38]
Chr11:118960401..118960415 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.518G>C (p.Arg173Pro) single nucleotide variant Acute intermittent porphyria [RCV003333896] Chr11:119091432 [GRCh38]
Chr11:118962142 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.815del (p.Lys272fs) deletion Acute intermittent porphyria [RCV003334474] Chr11:119092800 [GRCh38]
Chr11:118963510 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.149A>C (p.Gln50Pro) single nucleotide variant Inborn genetic diseases [RCV003386495] Chr11:119088696 [GRCh38]
Chr11:118959406 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.74C>T (p.Thr25Ile) single nucleotide variant not provided [RCV003873131] Chr11:119088295 [GRCh38]
Chr11:118959005 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.788T>C (p.Val263Ala) single nucleotide variant not provided [RCV003873050] Chr11:119092774 [GRCh38]
Chr11:118963484 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.588G>A (p.Met196Ile) single nucleotide variant not provided [RCV003543426] Chr11:119091502 [GRCh38]
Chr11:118962212 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1062A>C (p.Ala354=) single nucleotide variant not provided [RCV003571654] Chr11:119093259 [GRCh38]
Chr11:118963969 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.613-13T>C single nucleotide variant not provided [RCV003826753] Chr11:119092112 [GRCh38]
Chr11:118962822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.344+5G>A single nucleotide variant not provided [RCV003569765] Chr11:119089765 [GRCh38]
Chr11:118960475 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1009A>T (p.Ser337Cys) single nucleotide variant not provided [RCV003875623] Chr11:119093206 [GRCh38]
Chr11:118963916 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.520C>T (p.Leu174Phe) single nucleotide variant not provided [RCV003482036] Chr11:119091434 [GRCh38]
Chr11:118962144 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.866_869del (p.Asp289fs) deletion not provided [RCV003480444] Chr11:119092973..119092976 [GRCh38]
Chr11:118963683..118963686 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.267-9T>G single nucleotide variant HMBS-related disorder [RCV003427822] Chr11:119089674 [GRCh38]
Chr11:118960384 [GRCh37]
Chr11:11q23.3		 uncertain significance
Single allele duplication not provided [RCV003448710] Chr11:102134973..134945611 [GRCh37]
Chr11:11q22.2-25		 pathogenic
NM_000190.4(HMBS):c.246A>C (p.Glu82Asp) single nucleotide variant not provided [RCV003666231] Chr11:119089252 [GRCh38]
Chr11:118959962 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.353dup (p.Asn118fs) duplication not provided [RCV003480443] Chr11:119089994..119089995 [GRCh38]
Chr11:118960704..118960705 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.602G>A (p.Arg201Gln) single nucleotide variant HMBS-related disorder [RCV003420780]|not provided [RCV003778191] Chr11:119091516 [GRCh38]
Chr11:118962226 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.38A>G (p.Glu13Gly) single nucleotide variant not specified [RCV003388509] Chr11:119088259 [GRCh38]
Chr11:118958969 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.605dup (p.Gln204fs) duplication Acute intermittent porphyria [RCV003445455] Chr11:119091518..119091519 [GRCh38]
Chr11:118962228..118962229 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.88-27_88-12del deletion Acute intermittent porphyria [RCV003388741] Chr11:119088607..119088622 [GRCh38]
Chr11:118959317..118959332 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.423-15C>A single nucleotide variant not provided [RCV003662027] Chr11:119090175 [GRCh38]
Chr11:118960885 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.269T>C (p.Val90Ala) single nucleotide variant not provided [RCV003689432] Chr11:119089685 [GRCh38]
Chr11:118960395 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.423-3C>T single nucleotide variant not provided [RCV003882452] Chr11:119090187 [GRCh38]
Chr11:118960897 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.825+19G>A single nucleotide variant not provided [RCV003824606] Chr11:119092830 [GRCh38]
Chr11:118963540 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.267-10A>G single nucleotide variant not provided [RCV003716271] Chr11:119089673 [GRCh38]
Chr11:118960383 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.480T>C (p.His160=) single nucleotide variant not provided [RCV003576458] Chr11:119090247 [GRCh38]
Chr11:118960957 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.924C>A (p.Gly308=) single nucleotide variant not provided [RCV003573188] Chr11:119093121 [GRCh38]
Chr11:118963831 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.499-17T>G single nucleotide variant not provided [RCV003575360] Chr11:119091396 [GRCh38]
Chr11:118962106 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.71G>T (p.Gly24Val) single nucleotide variant not provided [RCV003575388] Chr11:119088292 [GRCh38]
Chr11:118959002 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1074C>T (p.Asn358=) single nucleotide variant not provided [RCV003880434] Chr11:119093271 [GRCh38]
Chr11:118963981 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.345-11_345-8dup duplication not provided [RCV003574000] Chr11:119089978..119089979 [GRCh38]
Chr11:118960688..118960689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.161-10C>G single nucleotide variant not provided [RCV003875950] Chr11:119089072 [GRCh38]
Chr11:118959782 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+15_651+22del deletion not provided [RCV003692221] Chr11:119092178..119092185 [GRCh38]
Chr11:118962888..118962895 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.423-10C>T single nucleotide variant not provided [RCV003572777] Chr11:119090180 [GRCh38]
Chr11:118960890 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.514A>C (p.Thr172Pro) single nucleotide variant not provided [RCV003661075] Chr11:119091428 [GRCh38]
Chr11:118962138 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.652-13G>A single nucleotide variant not provided [RCV003660341] Chr11:119092391 [GRCh38]
Chr11:118963101 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.486G>A (p.Glu162=) single nucleotide variant not provided [RCV003547390] Chr11:119090253 [GRCh38]
Chr11:118960963 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.462G>A (p.Leu154=) single nucleotide variant not provided [RCV003693467] Chr11:119090229 [GRCh38]
Chr11:118960939 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.553G>A (p.Ala185Thr) single nucleotide variant not provided [RCV003576701]|not specified [RCV003994572] Chr11:119091467 [GRCh38]
Chr11:118962177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.612+13C>T single nucleotide variant not provided [RCV003694795] Chr11:119091539 [GRCh38]
Chr11:118962249 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.423-17_423-16insGGACCGCAGCCGCCGCCGCCCGACCGCCGGGAGGATGGAGTTCAGCGGGCAGCGGAGCTGTCTCAGTCTTTGCCGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAATAAAATCTCATTGTA insertion not provided [RCV003544584] Chr11:119090158..119090159 [GRCh38]
Chr11:118960868..118960869 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.542A>G (p.Gln181Arg) single nucleotide variant not provided [RCV003880291] Chr11:119091456 [GRCh38]
Chr11:118962166 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.161-4T>G single nucleotide variant not provided [RCV003713227] Chr11:119089078 [GRCh38]
Chr11:118959788 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.826-14G>C single nucleotide variant not provided [RCV003695900] Chr11:119092921 [GRCh38]
Chr11:118963631 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.266+11A>G single nucleotide variant not provided [RCV003691781] Chr11:119089283 [GRCh38]
Chr11:118959993 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.435C>A (p.Thr145=) single nucleotide variant not provided [RCV003579037] Chr11:119090202 [GRCh38]
Chr11:118960912 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.679A>G (p.Lys227Glu) single nucleotide variant not provided [RCV003547298] Chr11:119092431 [GRCh38]
Chr11:118963141 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+15G>T single nucleotide variant not provided [RCV003573933] Chr11:119092178 [GRCh38]
Chr11:118962888 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.716_717dup (p.Asp240fs) duplication not provided [RCV003687211] Chr11:119092466..119092467 [GRCh38]
Chr11:118963176..118963177 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.423-8C>T single nucleotide variant not provided [RCV003660425] Chr11:119090182 [GRCh38]
Chr11:118960892 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.251C>A (p.Ala84Asp) single nucleotide variant Leukoencephalopathy, porphyria-related [RCV003881685] Chr11:119089257 [GRCh38]
Chr11:118959967 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.95G>T (p.Arg32Leu) single nucleotide variant not provided [RCV003574590] Chr11:119088642 [GRCh38]
Chr11:118959352 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+10G>C single nucleotide variant not provided [RCV003826077] Chr11:119085076 [GRCh38]
Chr11:118955786 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.544_546del (p.Glu182del) deletion not provided [RCV003828279] Chr11:119091456..119091458 [GRCh38]
Chr11:118962166..118962168 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.110G>A (p.Ser37Asn) single nucleotide variant not provided [RCV003547020] Chr11:119088657 [GRCh38]
Chr11:118959367 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.32C>T (p.Ala11Val) single nucleotide variant not provided [RCV003690529] Chr11:119085065 [GRCh38]
Chr11:118955775 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.718G>A (p.Asp240Asn) single nucleotide variant not provided [RCV003827889] Chr11:119092470 [GRCh38]
Chr11:118963180 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.88-7C>T single nucleotide variant not provided [RCV003573484] Chr11:119088628 [GRCh38]
Chr11:118959338 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.161-14_161-11del deletion not provided [RCV003665795] Chr11:119089067..119089070 [GRCh38]
Chr11:118959777..118959780 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.201A>G (p.Ala67=) single nucleotide variant not provided [RCV003835446] Chr11:119089122 [GRCh38]
Chr11:118959832 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.241C>T (p.Leu81Phe) single nucleotide variant not provided [RCV003833758] Chr11:119089247 [GRCh38]
Chr11:118959957 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.345-14C>T single nucleotide variant not provided [RCV003579636] Chr11:119089976 [GRCh38]
Chr11:118960686 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.771+13C>A single nucleotide variant not provided [RCV003850474] Chr11:119092536 [GRCh38]
Chr11:118963246 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.345-11T>G single nucleotide variant not provided [RCV003833199] Chr11:119089979 [GRCh38]
Chr11:118960689 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.295G>A (p.Asp99Asn) single nucleotide variant not provided [RCV003557674] Chr11:119089711 [GRCh38]
Chr11:118960421 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.88-2A>G single nucleotide variant not provided [RCV003557673] Chr11:119088633 [GRCh38]
Chr11:118959343 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.499-2A>T single nucleotide variant not provided [RCV003549724] Chr11:119091411 [GRCh38]
Chr11:118962121 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.339C>T (p.Ile113=) single nucleotide variant not provided [RCV003548693] Chr11:119089755 [GRCh38]
Chr11:118960465 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.34-9T>A single nucleotide variant not provided [RCV003672024] Chr11:119088246 [GRCh38]
Chr11:118958956 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.1084T>G (p.Ter362Glu) single nucleotide variant not provided [RCV003562135] Chr11:119093281 [GRCh38]
Chr11:118963991 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.267-15C>T single nucleotide variant not provided [RCV003817635] Chr11:119089668 [GRCh38]
Chr11:118960378 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.88-9T>C single nucleotide variant not provided [RCV003548770] Chr11:119088626 [GRCh38]
Chr11:118959336 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.703G>A (p.Val235Met) single nucleotide variant not provided [RCV003856273] Chr11:119092455 [GRCh38]
Chr11:118963165 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.887dup (p.Ala297fs) duplication not provided [RCV003557678] Chr11:119092995..119092996 [GRCh38]
Chr11:118963705..118963706 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.651+6C>G single nucleotide variant not provided [RCV003855180] Chr11:119092169 [GRCh38]
Chr11:118962879 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.612+19C>G single nucleotide variant not provided [RCV003854780] Chr11:119091545 [GRCh38]
Chr11:118962255 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.571G>C (p.Ala191Pro) single nucleotide variant not provided [RCV003837802] Chr11:119091485 [GRCh38]
Chr11:118962195 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.772-2A>G single nucleotide variant Acute intermittent porphyria [RCV003994651] Chr11:119092756 [GRCh38]
Chr11:118963466 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.913-18C>T single nucleotide variant not provided [RCV003816995] Chr11:119093092 [GRCh38]
Chr11:118963802 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.345-6C>A single nucleotide variant not provided [RCV003673760] Chr11:119089984 [GRCh38]
Chr11:118960694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.201A>T (p.Ala67=) single nucleotide variant not provided [RCV003838327] Chr11:119089122 [GRCh38]
Chr11:118959832 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.613-19C>T single nucleotide variant not provided [RCV003814143] Chr11:119092106 [GRCh38]
Chr11:118962816 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+12G>A single nucleotide variant not provided [RCV003665937] Chr11:119093033 [GRCh38]
Chr11:118963743 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.422+8G>A single nucleotide variant not provided [RCV003849392] Chr11:119090075 [GRCh38]
Chr11:118960785 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.160+20G>C single nucleotide variant not provided [RCV003664524] Chr11:119088727 [GRCh38]
Chr11:118959437 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.525G>A (p.Arg175=) single nucleotide variant not provided [RCV003849495] Chr11:119091439 [GRCh38]
Chr11:118962149 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.826-6C>T single nucleotide variant not provided [RCV003852106] Chr11:119092929 [GRCh38]
Chr11:118963639 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.908C>A (p.Ala303Asp) single nucleotide variant not provided [RCV003659712] Chr11:119093017 [GRCh38]
Chr11:118963727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.604G>T (p.Val202Leu) single nucleotide variant not provided [RCV003557675] Chr11:119091518 [GRCh38]
Chr11:118962228 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.643G>A (p.Val215Met) single nucleotide variant Acute intermittent porphyria [RCV004818379]|not provided [RCV003557676] Chr11:119092155 [GRCh38]
Chr11:118962865 [GRCh37]
Chr11:11q23.3		 pathogenic|likely pathogenic
NM_000190.4(HMBS):c.651+13A>G single nucleotide variant not provided [RCV003701064] Chr11:119092176 [GRCh38]
Chr11:118962886 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.246A>G (p.Glu82=) single nucleotide variant not provided [RCV003549544] Chr11:119089252 [GRCh38]
Chr11:118959962 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+1G>A single nucleotide variant not provided [RCV003557679] Chr11:119093022 [GRCh38]
Chr11:118963732 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.87+4G>A single nucleotide variant not provided [RCV003666268] Chr11:119088312 [GRCh38]
Chr11:118959022 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.105G>A (p.Thr35=) single nucleotide variant not provided [RCV003701186] Chr11:119088652 [GRCh38]
Chr11:118959362 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.811A>T (p.Met271Leu) single nucleotide variant not provided [RCV003668911] Chr11:119092797 [GRCh38]
Chr11:118963507 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.977G>A (p.Gly326Glu) single nucleotide variant not provided [RCV003667571] Chr11:119093174 [GRCh38]
Chr11:118963884 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.367G>A (p.Val123Ile) single nucleotide variant not provided [RCV003853400] Chr11:119090012 [GRCh38]
Chr11:118960722 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.561C>T (p.Ile187=) single nucleotide variant not provided [RCV003821900] Chr11:119091475 [GRCh38]
Chr11:118962185 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.866A>C (p.Asp289Ala) single nucleotide variant not provided [RCV003730598] Chr11:119092975 [GRCh38]
Chr11:118963685 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.86A>G (p.Gln29Arg) single nucleotide variant not provided [RCV003677572] Chr11:119088307 [GRCh38]
Chr11:118959017 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+20C>T single nucleotide variant not provided [RCV003707629] Chr11:119092183 [GRCh38]
Chr11:118962893 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.678C>G (p.Ala226=) single nucleotide variant not provided [RCV003845155] Chr11:119092430 [GRCh38]
Chr11:118963140 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.825+15del deletion not provided [RCV003704168] Chr11:119092824 [GRCh38]
Chr11:118963534 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.510_511del (p.Asn171fs) deletion not provided [RCV003564015] Chr11:119091424..119091425 [GRCh38]
Chr11:118962134..118962135 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.512A>G (p.Asn171Ser) single nucleotide variant not provided [RCV003552143] Chr11:119091426 [GRCh38]
Chr11:118962136 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.161-16_161-13del microsatellite not provided [RCV003823501] Chr11:119089059..119089062 [GRCh38]
Chr11:118959769..118959772 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.912+4C>G single nucleotide variant not provided [RCV003682191] Chr11:119093025 [GRCh38]
Chr11:118963735 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.509T>A (p.Leu170His) single nucleotide variant not provided [RCV003676697] Chr11:119091423 [GRCh38]
Chr11:118962133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.123A>T (p.Thr41=) single nucleotide variant not provided [RCV003853118] Chr11:119088670 [GRCh38]
Chr11:118959380 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.160+16del deletion not provided [RCV003844442] Chr11:119088721 [GRCh38]
Chr11:118959431 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.291G>A (p.Leu97=) single nucleotide variant not provided [RCV003857056] Chr11:119089707 [GRCh38]
Chr11:118960417 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1083T>C (p.His361=) single nucleotide variant not provided [RCV003677692] Chr11:119093280 [GRCh38]
Chr11:118963990 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.412C>T (p.Pro138Ser) single nucleotide variant not provided [RCV003847225] Chr11:119090057 [GRCh38]
Chr11:118960767 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.483G>A (p.Leu161=) single nucleotide variant not provided [RCV003728996] Chr11:119090250 [GRCh38]
Chr11:118960960 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.915T>C (p.His305=) single nucleotide variant not provided [RCV003678405] Chr11:119093112 [GRCh38]
Chr11:118963822 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.858C>T (p.Asp286=) single nucleotide variant not provided [RCV003737175] Chr11:119092967 [GRCh38]
Chr11:118963677 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.889_893del (p.Ala297fs) deletion not provided [RCV003557470] Chr11:119092998..119093002 [GRCh38]
Chr11:118963708..118963712 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.894C>T (p.Thr298=) single nucleotide variant not provided [RCV003557472] Chr11:119093003 [GRCh38]
Chr11:118963713 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.119084594_119084596del deletion not provided [RCV003704092] Chr11:119084592..119084594 [GRCh38]
Chr11:118955302..118955304 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.160+11T>C single nucleotide variant not provided [RCV003563783] Chr11:119088718 [GRCh38]
Chr11:118959428 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.594G>C (p.Trp198Cys) single nucleotide variant Inborn genetic diseases [RCV004987109]|not provided [RCV003868146] Chr11:119091508 [GRCh38]
Chr11:118962218 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.908C>T (p.Ala303Val) single nucleotide variant not provided [RCV003683445] Chr11:119093017 [GRCh38]
Chr11:118963727 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.382A>T (p.Lys128Ter) single nucleotide variant not provided [RCV003685635] Chr11:119090027 [GRCh38]
Chr11:118960737 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.647G>C (p.Gly216Ala) single nucleotide variant not provided [RCV003821765] Chr11:119092159 [GRCh38]
Chr11:118962869 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.210+9A>T single nucleotide variant not provided [RCV003676795] Chr11:119089140 [GRCh38]
Chr11:118959850 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.647G>T (p.Gly216Val) single nucleotide variant not provided [RCV003685768] Chr11:119092159 [GRCh38]
Chr11:118962869 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.87+14C>T single nucleotide variant not provided [RCV003682544] Chr11:119088322 [GRCh38]
Chr11:118959032 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.160+16A>G single nucleotide variant not provided [RCV003868727] Chr11:119088723 [GRCh38]
Chr11:118959433 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.573T>C (p.Ala191=) single nucleotide variant not provided [RCV003862106] Chr11:119091487 [GRCh38]
Chr11:118962197 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.119084598_119084600del deletion not provided [RCV003684599] Chr11:119084595..119084597 [GRCh38]
Chr11:118955305..118955307 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119084595G>T single nucleotide variant not provided [RCV003676472] Chr11:119084595 [GRCh38]
Chr11:118955305 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.164C>G (p.Ala55Gly) single nucleotide variant not provided [RCV003683549] Chr11:119089085 [GRCh38]
Chr11:118959795 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912+18C>A single nucleotide variant not provided [RCV003848616] Chr11:119093039 [GRCh38]
Chr11:118963749 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.951C>G (p.Gly317=) single nucleotide variant not provided [RCV003670697] Chr11:119093148 [GRCh38]
Chr11:118963858 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.631T>A (p.Cys211Ser) single nucleotide variant not provided [RCV003564770] Chr11:119092143 [GRCh38]
Chr11:118962853 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.612+14C>G single nucleotide variant not provided [RCV003707387] Chr11:119091540 [GRCh38]
Chr11:118962250 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.345-7C>G single nucleotide variant not provided [RCV003860733] Chr11:119089983 [GRCh38]
Chr11:118960693 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.600C>A (p.Asn200Lys) single nucleotide variant not provided [RCV003712349] Chr11:119091514 [GRCh38]
Chr11:118962224 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.71del (p.Gly24fs) deletion not provided [RCV003678423] Chr11:119088290 [GRCh38]
Chr11:118959000 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.826-3del deletion not provided [RCV003680336] Chr11:119092929 [GRCh38]
Chr11:118963639 [GRCh37]
Chr11:11q23.3		 benign
NM_000190.4(HMBS):c.423-20T>C single nucleotide variant not provided [RCV003861292] Chr11:119090170 [GRCh38]
Chr11:118960880 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.489C>G (p.Phe163Leu) single nucleotide variant not provided [RCV003709720] Chr11:119090256 [GRCh38]
Chr11:118960966 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.825+18G>A single nucleotide variant not provided [RCV003733298] Chr11:119092829 [GRCh38]
Chr11:118963539 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.232A>G (p.Thr78Ala) single nucleotide variant not specified [RCV003988344] Chr11:119089238 [GRCh38]
Chr11:118959948 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.34-25T>C single nucleotide variant HMBS-related disorder [RCV003924614] Chr11:119088230 [GRCh38]
Chr11:118958940 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.413C>T (p.Pro138Leu) single nucleotide variant Acute intermittent porphyria [RCV003990487] Chr11:119090058 [GRCh38]
Chr11:118960768 [GRCh37]
Chr11:11q23.3		 likely pathogenic
GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3 copy number gain not provided [RCV004442759] Chr11:116683755..134937416 [GRCh37]
Chr11:11q23.3-25		 pathogenic
NC_000011.9:g.(?_118007742)_(119170491_?)del deletion not provided [RCV004580297] Chr11:118007742..119170491 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.9_33+11del deletion Acute intermittent porphyria [RCV004594970] Chr11:119085042..119085077 [GRCh38]
Chr11:118955752..118955787 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.499-15A>C single nucleotide variant not provided [RCV004793851] Chr11:119091398 [GRCh38]
Chr11:118962108 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.601del (p.Arg201fs) deletion not provided [RCV004792232] Chr11:119091514 [GRCh38]
Chr11:118962224 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.85del (p.Gln29fs) deletion not provided [RCV004792231] Chr11:119088305 [GRCh38]
Chr11:118959015 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.541C>T (p.Gln181Ter) single nucleotide variant not provided [RCV004729207] Chr11:119091455 [GRCh38]
Chr11:118962165 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.160_160+1del deletion Acute intermittent porphyria [RCV004771622] Chr11:119088707..119088708 [GRCh38]
Chr11:118959417..118959418 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.760del (p.Phe253_Leu254insTer) deletion Acute intermittent porphyria [RCV004764606] Chr11:119092511 [GRCh38]
Chr11:118963221 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.922G>A (p.Gly308Ser) single nucleotide variant Inborn genetic diseases [RCV004985849] Chr11:119093119 [GRCh38]
Chr11:118963829 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+13C>A single nucleotide variant not provided [RCV005137154] Chr11:119085079 [GRCh38]
Chr11:118955789 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.207T>C (p.Ser69=) single nucleotide variant not provided [RCV005067091] Chr11:119089128 [GRCh38]
Chr11:118959838 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.816G>A (p.Lys272=) single nucleotide variant not provided [RCV005140392] Chr11:119092802 [GRCh38]
Chr11:118963512 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.826-14G>A single nucleotide variant not provided [RCV005128359] Chr11:119092921 [GRCh38]
Chr11:118963631 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.357T>C (p.Pro119=) single nucleotide variant not provided [RCV005138163] Chr11:119090002 [GRCh38]
Chr11:118960712 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.88-1G>A single nucleotide variant not provided [RCV005125752] Chr11:119088634 [GRCh38]
Chr11:118959344 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.658T>C (p.Leu220=) single nucleotide variant not provided [RCV005067823] Chr11:119092410 [GRCh38]
Chr11:118963120 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.344+20G>C single nucleotide variant not provided [RCV005132850] Chr11:119089780 [GRCh38]
Chr11:118960490 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.677C>T (p.Ala226Val) single nucleotide variant not provided [RCV005121937] Chr11:119092429 [GRCh38]
Chr11:118963139 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.808G>C (p.Ala270Pro) single nucleotide variant not provided [RCV005136846] Chr11:119092794 [GRCh38]
Chr11:118963504 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.573T>G (p.Ala191=) single nucleotide variant not provided [RCV005084759] Chr11:119091487 [GRCh38]
Chr11:118962197 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.312T>G (p.Leu104=) single nucleotide variant not provided [RCV005115758] Chr11:119089728 [GRCh38]
Chr11:118960438 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.443T>G (p.Leu148Arg) single nucleotide variant not provided [RCV005119921] Chr11:119090210 [GRCh38]
Chr11:118960920 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.467G>A (p.Arg156Lys) single nucleotide variant not provided [RCV005108106] Chr11:119090234 [GRCh38]
Chr11:118960944 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.160+17G>A single nucleotide variant not provided [RCV005105592] Chr11:119088724 [GRCh38]
Chr11:118959434 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.67G>C (p.Val23Leu) single nucleotide variant not provided [RCV005125620] Chr11:119088288 [GRCh38]
Chr11:118958998 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.118G>A (p.Ala40Thr) single nucleotide variant not provided [RCV005134171] Chr11:119088665 [GRCh38]
Chr11:118959375 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.651+9G>A single nucleotide variant not provided [RCV005115673] Chr11:119092172 [GRCh38]
Chr11:118962882 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.160A>T (p.Ile54Phe) single nucleotide variant not provided [RCV005120426] Chr11:119088707 [GRCh38]
Chr11:118959417 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.598A>T (p.Asn200Tyr) single nucleotide variant not provided [RCV005085332] Chr11:119091512 [GRCh38]
Chr11:118962222 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.88-14_88-13delinsAA indel not provided [RCV005117851] Chr11:119088621..119088622 [GRCh38]
Chr11:118959331..118959332 [GRCh37]
Chr11:11q23.3		 uncertain significance
NC_000011.10:g.119092758del deletion not provided [RCV005116920] Chr11:119092757 [GRCh38]
Chr11:118963467 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.411G>T (p.Leu137=) single nucleotide variant not provided [RCV005079223] Chr11:119090056 [GRCh38]
Chr11:118960766 [GRCh37]
Chr11:11q23.3		 likely benign
NC_000011.10:g.119084600G>T single nucleotide variant not provided [RCV005191290] Chr11:119084600 [GRCh38]
Chr11:118955310 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.429G>A (p.Val143=) single nucleotide variant not provided [RCV005173492] Chr11:119090196 [GRCh38]
Chr11:118960906 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.654G>C (p.Gly218=) single nucleotide variant not provided [RCV005080320] Chr11:119092406 [GRCh38]
Chr11:118963116 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.180G>C (p.Gly60=) single nucleotide variant not provided [RCV005075090] Chr11:119089101 [GRCh38]
Chr11:118959811 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.160+3G>T single nucleotide variant not provided [RCV005199064] Chr11:119088710 [GRCh38]
Chr11:118959420 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.771+14T>C single nucleotide variant not provided [RCV005207626] Chr11:119092537 [GRCh38]
Chr11:118963247 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.652-5A>G single nucleotide variant not provided [RCV005154815] Chr11:119092399 [GRCh38]
Chr11:118963109 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.161-6C>T single nucleotide variant not provided [RCV005155515] Chr11:119089076 [GRCh38]
Chr11:118959786 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.715C>T (p.His239Tyr) single nucleotide variant not provided [RCV005169138] Chr11:119092467 [GRCh38]
Chr11:118963177 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.161-3C>G single nucleotide variant not provided [RCV005072851] Chr11:119089079 [GRCh38]
Chr11:118959789 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.251C>T (p.Ala84Val) single nucleotide variant not provided [RCV005076286] Chr11:119089257 [GRCh38]
Chr11:118959967 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.741_748dup (p.Glu250fs) duplication not provided [RCV005202949] Chr11:119092486..119092487 [GRCh38]
Chr11:118963196..118963197 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.565_566del (p.Ala189fs) deletion not provided [RCV005204247] Chr11:119091479..119091480 [GRCh38]
Chr11:118962189..118962190 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.499-8C>G single nucleotide variant not provided [RCV005159708] Chr11:119091405 [GRCh38]
Chr11:118962115 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.771+13C>T single nucleotide variant not provided [RCV005196077] Chr11:119092536 [GRCh38]
Chr11:118963246 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.883A>G (p.Met295Val) single nucleotide variant not provided [RCV005180245] Chr11:119092992 [GRCh38]
Chr11:118963702 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.928G>C (p.Glu310Gln) single nucleotide variant not provided [RCV005194885] Chr11:119093125 [GRCh38]
Chr11:118963835 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.344+11T>A single nucleotide variant not provided [RCV005079730] Chr11:119089771 [GRCh38]
Chr11:118960481 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.20C>T (p.Ala7Val) single nucleotide variant not provided [RCV005168847] Chr11:119085053 [GRCh38]
Chr11:118955763 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.612+15del deletion not provided [RCV005157318] Chr11:119091541 [GRCh38]
Chr11:118962251 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.772-4A>G single nucleotide variant not provided [RCV005173168] Chr11:119092754 [GRCh38]
Chr11:118963464 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.313C>T (p.Pro105Ser) single nucleotide variant not provided [RCV005080863] Chr11:119089729 [GRCh38]
Chr11:118960439 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.33+2T>A single nucleotide variant not provided [RCV005202948] Chr11:119085068 [GRCh38]
Chr11:118955778 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.839GAG[1] (p.Gly281del) microsatellite not provided [RCV005202950] Chr11:119092947..119092949 [GRCh38]
Chr11:118963657..118963659 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.23C>T (p.Ala8Val) single nucleotide variant not provided [RCV005080674] Chr11:119085056 [GRCh38]
Chr11:118955766 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.794T>C (p.Val265Ala) single nucleotide variant not provided [RCV005147051] Chr11:119092780 [GRCh38]
Chr11:118963490 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.211-19G>A single nucleotide variant not provided [RCV005082428] Chr11:119089198 [GRCh38]
Chr11:118959908 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.831C>T (p.Tyr277=) single nucleotide variant not provided [RCV005082438] Chr11:119092940 [GRCh38]
Chr11:118963650 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.445C>G (p.Arg149Gly) single nucleotide variant not provided [RCV005082575] Chr11:119090212 [GRCh38]
Chr11:118960922 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.646G>A (p.Gly216Ser) single nucleotide variant not provided [RCV005155881] Chr11:119092158 [GRCh38]
Chr11:118962868 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.825+11G>T single nucleotide variant not provided [RCV005079580] Chr11:119092822 [GRCh38]
Chr11:118963532 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1028T>C (p.Leu343Pro) single nucleotide variant not provided [RCV005202952] Chr11:119093225 [GRCh38]
Chr11:118963935 [GRCh37]
Chr11:11q23.3		 likely pathogenic
NM_000190.4(HMBS):c.345-6C>T single nucleotide variant not provided [RCV005078732] Chr11:119089984 [GRCh38]
Chr11:118960694 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.423-19G>T single nucleotide variant not provided [RCV005068553] Chr11:119090171 [GRCh38]
Chr11:118960881 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.149A>G (p.Gln50Arg) single nucleotide variant not provided [RCV005182912] Chr11:119088696 [GRCh38]
Chr11:118959406 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.34-15G>T single nucleotide variant not provided [RCV005160448] Chr11:119088240 [GRCh38]
Chr11:118958950 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.551G>A (p.Ser184Asn) single nucleotide variant not provided [RCV005168288] Chr11:119091465 [GRCh38]
Chr11:118962175 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.499-13C>T single nucleotide variant not provided [RCV005168293] Chr11:119091400 [GRCh38]
Chr11:118962110 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.636G>C (p.Met212Ile) single nucleotide variant not provided [RCV005176514] Chr11:119092148 [GRCh38]
Chr11:118962858 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.570A>T (p.Thr190=) single nucleotide variant not provided [RCV005199827] Chr11:119091484 [GRCh38]
Chr11:118962194 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.509T>C (p.Leu170Pro) single nucleotide variant not provided [RCV005199987] Chr11:119091423 [GRCh38]
Chr11:118962133 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.863_864insT (p.Asp289fs) insertion not provided [RCV005199988] Chr11:119092972..119092973 [GRCh38]
Chr11:118963682..118963683 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.108C>T (p.Asp36=) single nucleotide variant not provided [RCV005150676] Chr11:119088655 [GRCh38]
Chr11:118959365 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.1012C>T (p.Leu338=) single nucleotide variant not provided [RCV005169671] Chr11:119093209 [GRCh38]
Chr11:118963919 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.586A>G (p.Met196Val) single nucleotide variant not provided [RCV005170102] Chr11:119091500 [GRCh38]
Chr11:118962210 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.21G>A (p.Ala7=) single nucleotide variant not provided [RCV005170461] Chr11:119085054 [GRCh38]
Chr11:118955764 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.829T>C (p.Tyr277His) single nucleotide variant not provided [RCV005070800] Chr11:119092938 [GRCh38]
Chr11:118963648 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.927T>C (p.Pro309=) single nucleotide variant not provided [RCV005156192] Chr11:119093124 [GRCh38]
Chr11:118963834 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.762G>A (p.Leu254=) single nucleotide variant not provided [RCV005156196] Chr11:119092514 [GRCh38]
Chr11:118963224 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.498+15G>C single nucleotide variant not provided [RCV005202270] Chr11:119090280 [GRCh38]
Chr11:118960990 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.499C>G (p.Arg167Gly) single nucleotide variant not provided [RCV005156716] Chr11:119091413 [GRCh38]
Chr11:118962123 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.912G>C (p.Gln304His) single nucleotide variant not provided [RCV005172421] Chr11:119093021 [GRCh38]
Chr11:118963731 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.72_77del (p.Thr25_Arg26del) deletion not provided [RCV005195528] Chr11:119088292..119088297 [GRCh38]
Chr11:118959002..118959007 [GRCh37]
Chr11:11q23.3		 pathogenic
NM_000190.4(HMBS):c.423T>A (p.Ser141Arg) single nucleotide variant not provided [RCV005165756] Chr11:119090190 [GRCh38]
Chr11:118960900 [GRCh37]
Chr11:11q23.3		 uncertain significance
NM_000190.4(HMBS):c.613-10G>T single nucleotide variant not provided [RCV005144038] Chr11:119092115 [GRCh38]
Chr11:118962825 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.652-12T>C single nucleotide variant not provided [RCV005151846] Chr11:119092392 [GRCh38]
Chr11:118963102 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.612+19C>T single nucleotide variant not provided [RCV005073092] Chr11:119091545 [GRCh38]
Chr11:118962255 [GRCh37]
Chr11:11q23.3		 likely benign
NM_000190.4(HMBS):c.72T>G (p.Gly24=) single nucleotide variant not provided [RCV005166817] Chr11:119088293 [GRCh38]
Chr11:118959003 [GRCh37]
Chr11:11q23.3		 likely benign
miRNA Target Status (No longer updated)

Predicted Target Of
Summary Value
Count of predictions:6625
Count of miRNA genes:1069
Interacting mature miRNAs:1333
Transcripts:ENST00000278715, ENST00000392841, ENST00000442944, ENST00000534956, ENST00000535253, ENST00000535793, ENST00000536185, ENST00000536813, ENST00000537841, ENST00000539045, ENST00000539986, ENST00000542044, ENST00000542345, ENST00000542729, ENST00000542822, ENST00000543090, ENST00000543543, ENST00000543821, ENST00000544182, ENST00000544360, ENST00000544387, ENST00000545621, ENST00000545901, ENST00000546226, ENST00000546302
Prediction methods:Microtar, Miranda, Rnahybrid, Targetscan
Result types:miRGate_prediction

The detailed report is available here: Full Report CSV TAB Printer

miRNA Target Status data imported from miRGate (http://mirgate.bioinfo.cnio.es/).
For more information about miRGate, see PMID:25858286 or access the full paper here.


QTLs in Region (GRCh38)
The following QTLs overlap with this region.    Full Report CSV TAB Printer Gviewer
RGD IDSymbolNameLODP ValueTraitSub TraitChrStartStopSpecies
597171992GWAS1268066_Hprotein measurement QTL GWAS1268066 (human)3e-12protein measurement11119088621119088622Human
597343384GWAS1439458_Hserum alanine aminotransferase measurement QTL GWAS1439458 (human)2e-08serum alanine aminotransferase measurementserum alanine aminotransferase activity level (CMO:0000575)11119086536119086537Human
597297689GWAS1393763_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1393763 (human)7e-09lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597172284GWAS1268358_Hbody mass index QTL GWAS1268358 (human)5e-11body mass indexbody mass index (BMI) (CMO:0000105)11119086536119086537Human
597301180GWAS1397254_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1397254 (human)4e-10free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597154352GWAS1250426_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1250426 (human)3e-10phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597459508GWAS1555582_Hbody mass index QTL GWAS1555582 (human)6e-14body mass indexbody mass index (BMI) (CMO:0000105)11119087417119087418Human
597154750GWAS1250824_Hfree cholesterol measurement, high density lipoprotein cholesterol measurement QTL GWAS1250824 (human)6e-11free cholesterol measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597301680GWAS1397754_Hcholesteryl ester measurement, high density lipoprotein cholesterol measurement QTL GWAS1397754 (human)2e-09blood lipid amount (VT:0003949)blood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597160989GWAS1257063_Hhigh density lipoprotein cholesterol measurement QTL GWAS1257063 (human)9e-10high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597263058GWAS1359132_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1359132 (human)1e-08phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597465975GWAS1562049_Hwaist-hip ratio QTL GWAS1562049 (human)3e-14waist-hip ratiowaist to hip ratio (WHR) (CMO:0000020)11119088159119088160Human
597263189GWAS1359263_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1359263 (human)6e-09free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
596989925GWAS1109444_Hbody mass index QTL GWAS1109444 (human)6e-14body mass index11119087417119087418Human
597349294GWAS1445368_Hbody mass index QTL GWAS1445368 (human)3e-12body mass indexbody mass index (BMI) (CMO:0000105)11119086536119086537Human
597155811GWAS1251885_Hphospholipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1251885 (human)4e-08phospholipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597149283GWAS1245357_Hfree cholesterol:total lipids ratio, high density lipoprotein cholesterol measurement QTL GWAS1245357 (human)5e-10free cholesterol:total lipids ratio, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597431236GWAS1527310_Hprotein measurement QTL GWAS1527310 (human)3e-09protein measurement11119091520119091521Human
597261824GWAS1357898_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1357898 (human)5e-09lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human
597040140GWAS1136214_Hapolipoprotein A 1 measurement QTL GWAS1136214 (human)1e-20apolipoprotein A 1 measurementblood apolipoprotein AI level (CMO:0000520)11119086678119086679Human
1559115SCL20_HSerum cholesterol level QTL 20 (human)3.220.001213Lipid levelLDL cholesterol11100442501126442501Human
597154794GWAS1250868_Hlipid measurement, high density lipoprotein cholesterol measurement QTL GWAS1250868 (human)1e-10lipid measurement, high density lipoprotein cholesterol measurementblood high density lipoprotein cholesterol level (CMO:0000052)11119086678119086679Human

Markers in Region
STS-M95623  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,406 - 118,964,654UniSTSGRCh37
Build 3611118,469,616 - 118,469,864RGDNCBI36
Celera11116,121,820 - 116,122,068RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,854 - 114,904,102UniSTS
GeneMap99-GB4 RH Map11385.48UniSTS
G59319  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,261 - 118,959,387UniSTSGRCh37
Build 3611118,464,471 - 118,464,597RGDNCBI36
Celera11116,116,676 - 116,116,802RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,709 - 114,898,835UniSTS
TNG Radiation Hybrid Map1155118.0UniSTS
GDB:176383  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,746 - 118,955,834UniSTSGRCh37
Build 3611118,460,956 - 118,461,044RGDNCBI36
Celera11116,113,167 - 116,113,255RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,895,202 - 114,895,290UniSTS
GDB:179873  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,091 - 118,962,350UniSTSGRCh37
Build 3611118,467,301 - 118,467,560RGDNCBI36
Celera11116,119,506 - 116,119,765RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,539 - 114,901,798UniSTS
GDB:181636  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,658 - 118,955,822UniSTSGRCh37
Build 3611118,460,868 - 118,461,032RGDNCBI36
Celera11116,113,079 - 116,113,243RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,895,114 - 114,895,278UniSTS
GDB:185078  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,091 - 118,962,911UniSTSGRCh37
Build 3611118,467,301 - 118,468,121RGDNCBI36
Celera11116,119,506 - 116,120,325RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,539 - 114,902,359UniSTS
GDB:196345  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,957,743 - 118,958,635UniSTSGRCh37
Build 3611118,462,953 - 118,463,845RGDNCBI36
Celera11116,115,158 - 116,116,050RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,190 - 114,898,083UniSTS
GDB:196348  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,961,924 - 118,962,360UniSTSGRCh37
Build 3611118,467,134 - 118,467,570RGDNCBI36
Celera11116,119,339 - 116,119,775RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,901,372 - 114,901,808UniSTS
GDB:197909  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,452 - 118,955,857UniSTSGRCh37
Build 3611118,460,662 - 118,461,067RGDNCBI36
Celera11116,112,873 - 116,113,278RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,894,908 - 114,895,313UniSTS
GDB:198121  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,520 - 118,958,837UniSTSGRCh37
Build 3611118,463,730 - 118,464,047RGDNCBI36
Celera11116,115,935 - 116,116,252RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,968 - 114,898,285UniSTS
GDB:371404  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,955,460 - 118,955,834UniSTSGRCh37
Build 3611118,460,670 - 118,461,044RGDNCBI36
Celera11116,112,881 - 116,113,255RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,894,916 - 114,895,290UniSTS
GDB:371408  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,546 - 118,958,855UniSTSGRCh37
Build 3611118,463,756 - 118,464,065RGDNCBI36
Celera11116,115,961 - 116,116,270RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,897,994 - 114,898,303UniSTS
GDB:371412  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,827 - 118,959,058UniSTSGRCh37
Build 3611118,464,037 - 118,464,268RGDNCBI36
Celera11116,116,242 - 116,116,473RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,275 - 114,898,506UniSTS
GDB:371415  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,286 - 118,959,460UniSTSGRCh37
Build 3611118,464,496 - 118,464,670RGDNCBI36
Celera11116,116,701 - 116,116,875RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,734 - 114,898,908UniSTS
GDB:371419  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,733 - 118,960,039UniSTSGRCh37
Build 3611118,464,943 - 118,465,249RGDNCBI36
Celera11116,117,148 - 116,117,454RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,181 - 114,899,487UniSTS
GDB:371425  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,339 - 118,960,515UniSTSGRCh37
Build 3611118,465,549 - 118,465,725RGDNCBI36
Celera11116,117,754 - 116,117,930RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,787 - 114,899,963UniSTS
GDB:371431  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,849 - 118,961,031UniSTSGRCh37
Build 3611118,466,059 - 118,466,241RGDNCBI36
Celera11116,118,264 - 116,118,446RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,900,297 - 114,900,479UniSTS
GDB:371437  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,962,773 - 118,962,912UniSTSGRCh37
Build 3611118,467,983 - 118,468,122RGDNCBI36
Celera11116,120,187 - 116,120,326RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,902,221 - 114,902,360UniSTS
GDB:371443  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,427 - 118,963,572UniSTSGRCh37
Build 3611118,468,637 - 118,468,782RGDNCBI36
Celera11116,120,841 - 116,120,986RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,902,875 - 114,903,020UniSTS
GDB:371447  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,585 - 118,963,803UniSTSGRCh37
Build 3611118,468,795 - 118,469,013RGDNCBI36
Celera11116,120,999 - 116,121,217RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,033 - 114,903,251UniSTS
GDB:371450  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,787 - 118,964,025UniSTSGRCh37
Build 3611118,468,997 - 118,469,235RGDNCBI36
Celera11116,121,201 - 116,121,439RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,235 - 114,903,473UniSTS
G02272  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh37645,138,767 - 45,140,394UniSTSGRCh37
GRCh3711118,957,526 - 118,957,634UniSTSGRCh37
Build 3611118,462,736 - 118,462,844RGDNCBI36
Celera11116,114,941 - 116,115,049RGD
Celera646,691,501 - 46,693,126UniSTS
Cytogenetic Map6p21.1-p21.3UniSTS
Cytogenetic Map11q23.3UniSTS
HuRef644,861,075 - 44,862,700UniSTS
HuRef11114,896,972 - 114,897,081UniSTS
PMC136706P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,960,339 - 118,960,604UniSTSGRCh37
Build 3611118,465,549 - 118,465,814RGDNCBI36
Celera11116,117,754 - 116,118,019RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,899,787 - 114,900,052UniSTS
PMC165384P1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,959,400 - 118,959,518UniSTSGRCh37
Build 3611118,464,610 - 118,464,728RGDNCBI36
Celera11116,116,815 - 116,116,933RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,898,848 - 114,898,966UniSTS
D11S4628  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,964,074 - 118,964,215UniSTSGRCh37
Build 3611118,469,284 - 118,469,425RGDNCBI36
Celera11116,121,488 - 116,121,629RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,522 - 114,903,663UniSTS
Stanford-G3 RH Map115331.0UniSTS
NCBI RH Map111024.0UniSTS
GeneMap99-G3 RH Map115331.0UniSTS
HMBS  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,989 - 118,964,256UniSTSGRCh37
Build 3611118,469,199 - 118,469,466RGDNCBI36
Celera11116,121,403 - 116,121,670RGD
Cytogenetic Map11q23.3UniSTS
HuRef11114,903,437 - 114,903,704UniSTS
GeneMap99-GB4 RH Map11382.38UniSTS
HMBS_8406  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,963,859 - 118,964,399UniSTSGRCh37
Build 3611118,469,069 - 118,469,609RGDNCBI36
Celera11116,121,273 - 116,121,813RGD
HuRef11114,903,307 - 114,903,847UniSTS
MARC_4999-5000:996679654:1  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh3711118,958,976 - 118,959,820UniSTSGRCh37
Build 3611118,464,186 - 118,465,030RGDNCBI36
Celera11116,116,391 - 116,117,235RGD
HuRef11114,898,424 - 114,899,268UniSTS


Expression

RNA-SEQ Expression

adipose tissue
alimentary part of gastrointestinal system
appendage
circulatory system
ectoderm
endocrine system
endoderm
entire extraembryonic component
exocrine system
hemolymphoid system
hepatobiliary system
integumental system
mesenchyme
mesoderm
musculoskeletal system
nervous system
pharyngeal arch
renal system
reproductive system
respiratory system
sensory system
visual system
1204 2439 2788 2253 4974 1726 2351 6 624 1951 465 2270 7306 6472 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_008093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001024382 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258208 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001258209 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425053 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425054 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425056 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425057 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425058 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425059 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425061 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425062 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425063 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001425065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011542796 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_017017629 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368600 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054368602 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AA724756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB162702 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB429500 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AH002926 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK000628 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131072 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290275 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309544 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK310343 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003391 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP003392 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AW139390 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC000520 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC008149 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC019323 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BF210364 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ020524 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BX647328 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB128006 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471065 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D10608 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D12722 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D28419 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DQ915447 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HM856802 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  HQ731552 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KJ372706 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M60888 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M95623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S60381 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04217 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X04808 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X68018 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000392841   ⟹   ENSP00000376584
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,987 - 119,093,549 (+)Ensembl
Ensembl Acc Id: ENST00000442944   ⟹   ENSP00000392041
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,883 - 119,093,512 (+)Ensembl
Ensembl Acc Id: ENST00000534956
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,031 - 119,091,993 (+)Ensembl
Ensembl Acc Id: ENST00000535253   ⟹   ENSP00000442079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,983 - 119,091,526 (+)Ensembl
Ensembl Acc Id: ENST00000535793   ⟹   ENSP00000439904
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,915 - 119,091,540 (+)Ensembl
Ensembl Acc Id: ENST00000536185
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,866 - 119,089,739 (+)Ensembl
Ensembl Acc Id: ENST00000536813   ⟹   ENSP00000438726
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,911 - 119,092,487 (+)Ensembl
Ensembl Acc Id: ENST00000537841   ⟹   ENSP00000444730
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,885 - 119,093,516 (+)Ensembl
Ensembl Acc Id: ENST00000539045
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,092,611 - 119,093,543 (+)Ensembl
Ensembl Acc Id: ENST00000542044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,909 - 119,093,296 (+)Ensembl
Ensembl Acc Id: ENST00000542345
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,984 - 119,092,256 (+)Ensembl
Ensembl Acc Id: ENST00000542729   ⟹   ENSP00000443058
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,885 - 119,093,546 (+)Ensembl
Ensembl Acc Id: ENST00000542822   ⟹   ENSP00000444817
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,907 - 119,091,541 (+)Ensembl
Ensembl Acc Id: ENST00000543090   ⟹   ENSP00000445429
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,930 - 119,093,533 (+)Ensembl
Ensembl Acc Id: ENST00000543543
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,987 - 119,093,518 (+)Ensembl
Ensembl Acc Id: ENST00000543821
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,888 - 119,090,046 (+)Ensembl
Ensembl Acc Id: ENST00000544182
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,091,538 - 119,093,290 (+)Ensembl
Ensembl Acc Id: ENST00000544360
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,088,254 - 119,091,641 (+)Ensembl
Ensembl Acc Id: ENST00000544387   ⟹   ENSP00000438424
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,914 - 119,093,548 (+)Ensembl
Ensembl Acc Id: ENST00000545621   ⟹   ENSP00000444849
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,881 - 119,092,500 (+)Ensembl
Ensembl Acc Id: ENST00000545901
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,881 - 119,088,975 (+)Ensembl
Ensembl Acc Id: ENST00000546226
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,987 - 119,093,547 (+)Ensembl
Ensembl Acc Id: ENST00000546302   ⟹   ENSP00000445599
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,900 - 119,092,163 (+)Ensembl
Ensembl Acc Id: ENST00000640813   ⟹   ENSP00000491061
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,898 - 119,093,483 (+)Ensembl
Ensembl Acc Id: ENST00000648026   ⟹   ENSP00000498044
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,040 - 119,093,483 (+)Ensembl
Ensembl Acc Id: ENST00000648374   ⟹   ENSP00000497255
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,995 - 119,093,547 (+)Ensembl
Ensembl Acc Id: ENST00000648488   ⟹   ENSP00000498079
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,987 - 119,092,163 (+)Ensembl
Ensembl Acc Id: ENST00000649823
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,290 - 119,092,950 (+)Ensembl
Ensembl Acc Id: ENST00000649868   ⟹   ENSP00000497548
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,999 - 119,092,001 (+)Ensembl
Ensembl Acc Id: ENST00000650101   ⟹   ENSP00000496970
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,222 - 119,093,512 (+)Ensembl
Ensembl Acc Id: ENST00000650307
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,244 - 119,093,501 (+)Ensembl
Ensembl Acc Id: ENST00000652429   ⟹   ENSP00000498786
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,084,881 - 119,093,549 (+)Ensembl
Ensembl Acc Id: ENST00000686218   ⟹   ENSP00000509288
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,271 - 119,093,834 (+)Ensembl
Ensembl Acc Id: ENST00000686690
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,088,386 - 119,091,972 (+)Ensembl
Ensembl Acc Id: ENST00000691144
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,087,266 - 119,093,525 (+)Ensembl
Ensembl Acc Id: ENST00000691249
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl11119,085,223 - 119,093,536 (+)Ensembl
RefSeq Acc Id: NM_000190   ⟹   NP_000181
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)ENTREZGENE
GRCh3711118,955,587 - 118,964,259 (+)NCBI
Build 3611118,460,797 - 118,469,469 (+)NCBI Archive
HuRef11114,895,043 - 114,903,707 (+)ENTREZGENE
CHM1_111118,841,878 - 118,850,561 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001024382   ⟹   NP_001019553
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)ENTREZGENE
GRCh3711118,955,587 - 118,964,259 (+)NCBI
Build 3611118,463,907 - 118,469,469 (+)NCBI Archive
HuRef11114,895,043 - 114,903,707 (+)ENTREZGENE
CHM1_111118,844,999 - 118,850,561 (+)NCBI
T2T-CHM13v2.011119,108,372 - 119,113,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258208   ⟹   NP_001245137
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBI
CHM1_111118,841,878 - 118,850,561 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001258209   ⟹   NP_001245138
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,549 (+)NCBI
GRCh3711118,955,587 - 118,964,259 (+)NCBI
HuRef11114,895,043 - 114,903,707 (+)NCBI
CHM1_111118,841,878 - 118,850,561 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,932 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001425052   ⟹   NP_001411981
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425053   ⟹   NP_001411982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425054   ⟹   NP_001411983
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425056   ⟹   NP_001411985
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425057   ⟹   NP_001411986
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425058   ⟹   NP_001411987
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425059   ⟹   NP_001411988
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425061   ⟹   NP_001411990
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425062   ⟹   NP_001411991
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425063   ⟹   NP_001411992
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: NM_001425065   ⟹   NP_001411994
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,881 - 119,093,548 (+)NCBI
T2T-CHM13v2.011119,105,272 - 119,113,931 (+)NCBI
RefSeq Acc Id: XM_011542796   ⟹   XP_011541098
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_017017629   ⟹   XP_016873118
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,093,549 (+)NCBI
Sequence:
RefSeq Acc Id: XM_054368600   ⟹   XP_054224575
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011119,108,372 - 119,113,932 (+)NCBI
RefSeq Acc Id: XM_054368602   ⟹   XP_054224577
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.011119,108,372 - 119,113,932 (+)NCBI
Protein Sequences
Protein RefSeqs NP_000181 (Get FASTA)   NCBI Sequence Viewer  
  NP_001019553 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245137 (Get FASTA)   NCBI Sequence Viewer  
  NP_001245138 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411981 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411982 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411983 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411985 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411986 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411987 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411988 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411990 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411991 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411992 (Get FASTA)   NCBI Sequence Viewer  
  NP_001411994 (Get FASTA)   NCBI Sequence Viewer  
  XP_011541098 (Get FASTA)   NCBI Sequence Viewer  
  XP_016873118 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224575 (Get FASTA)   NCBI Sequence Viewer  
  XP_054224577 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA60028 (Get FASTA)   NCBI Sequence Viewer  
  AAA60029 (Get FASTA)   NCBI Sequence Viewer  
  AAA60030 (Get FASTA)   NCBI Sequence Viewer  
  AAC60602 (Get FASTA)   NCBI Sequence Viewer  
  AAH00520 (Get FASTA)   NCBI Sequence Viewer  
  AAH08149 (Get FASTA)   NCBI Sequence Viewer  
  AAH19323 (Get FASTA)   NCBI Sequence Viewer  
  ABI36594 (Get FASTA)   NCBI Sequence Viewer  
  ADX60069 (Get FASTA)   NCBI Sequence Viewer  
  AHW82961 (Get FASTA)   NCBI Sequence Viewer  
  BAA01463 (Get FASTA)   NCBI Sequence Viewer  
  BAA02216 (Get FASTA)   NCBI Sequence Viewer  
  BAA05785 (Get FASTA)   NCBI Sequence Viewer  
  BAD36778 (Get FASTA)   NCBI Sequence Viewer  
  BAF82964 (Get FASTA)   NCBI Sequence Viewer  
  BAG71787 (Get FASTA)   NCBI Sequence Viewer  
  CAA27801 (Get FASTA)   NCBI Sequence Viewer  
  CAA28499 (Get FASTA)   NCBI Sequence Viewer  
  CAA48156 (Get FASTA)   NCBI Sequence Viewer  
  EAW67447 (Get FASTA)   NCBI Sequence Viewer  
  EAW67448 (Get FASTA)   NCBI Sequence Viewer  
  EAW67449 (Get FASTA)   NCBI Sequence Viewer  
  EAW67450 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000376584
  ENSP00000376584.1
  ENSP00000392041
  ENSP00000392041.3
  ENSP00000438424
  ENSP00000438424.1
  ENSP00000438726.2
  ENSP00000439904.1
  ENSP00000442079.1
  ENSP00000443058
  ENSP00000443058.1
  ENSP00000444730
  ENSP00000444730.1
  ENSP00000444817.1
  ENSP00000444849.1
  ENSP00000445429
  ENSP00000445429.1
  ENSP00000445599.1
  ENSP00000491061.1
  ENSP00000496970
  ENSP00000496970.1
  ENSP00000497255
  ENSP00000497255.1
  ENSP00000497548.1
  ENSP00000498044.1
  ENSP00000498079.1
  ENSP00000498786
  ENSP00000498786.1
  ENSP00000509288
  ENSP00000509288.1
GenBank Protein P08397 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_000181   ⟸   NM_000190
- Peptide Label: isoform 1
- UniProtKB: P08396 (UniProtKB/Swiss-Prot),   G5EA58 (UniProtKB/Swiss-Prot),   G3V1P4 (UniProtKB/Swiss-Prot),   A8K2L0 (UniProtKB/Swiss-Prot),   Q16012 (UniProtKB/Swiss-Prot),   P08397 (UniProtKB/Swiss-Prot),   A0A3B3IRR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001019553   ⟸   NM_001024382
- Peptide Label: isoform 2
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245138   ⟸   NM_001258209
- Peptide Label: isoform 4
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001245137   ⟸   NM_001258208
- Peptide Label: isoform 3
- UniProtKB: F5H345 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011541098   ⟸   XM_011542796
- Peptide Label: isoform X3
- UniProtKB: A0A8I5KXV4 (UniProtKB/TrEMBL),   A0A3B3IRR1 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_016873118   ⟸   XM_017017629
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000498044   ⟸   ENST00000648026
Ensembl Acc Id: ENSP00000498079   ⟸   ENST00000648488
Ensembl Acc Id: ENSP00000497255   ⟸   ENST00000648374
Ensembl Acc Id: ENSP00000443058   ⟸   ENST00000542729
Ensembl Acc Id: ENSP00000497548   ⟸   ENST00000649868
Ensembl Acc Id: ENSP00000444817   ⟸   ENST00000542822
Ensembl Acc Id: ENSP00000445429   ⟸   ENST00000543090
Ensembl Acc Id: ENSP00000438424   ⟸   ENST00000544387
Ensembl Acc Id: ENSP00000444849   ⟸   ENST00000545621
Ensembl Acc Id: ENSP00000445599   ⟸   ENST00000546302
Ensembl Acc Id: ENSP00000496970   ⟸   ENST00000650101
Ensembl Acc Id: ENSP00000498786   ⟸   ENST00000652429
Ensembl Acc Id: ENSP00000442079   ⟸   ENST00000535253
Ensembl Acc Id: ENSP00000439904   ⟸   ENST00000535793
Ensembl Acc Id: ENSP00000392041   ⟸   ENST00000442944
Ensembl Acc Id: ENSP00000438726   ⟸   ENST00000536813
Ensembl Acc Id: ENSP00000491061   ⟸   ENST00000640813
Ensembl Acc Id: ENSP00000444730   ⟸   ENST00000537841
Ensembl Acc Id: ENSP00000376584   ⟸   ENST00000392841
Ensembl Acc Id: ENSP00000509288   ⟸   ENST00000686218
RefSeq Acc Id: XP_054224575   ⟸   XM_054368600
- Peptide Label: isoform X1
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054224577   ⟸   XM_054368602
- Peptide Label: isoform X3
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL),   A0A8I5KXV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411981   ⟸   NM_001425052
- Peptide Label: isoform 2
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411992   ⟸   NM_001425063
- Peptide Label: isoform 10
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL),   A0A8I5KXV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411982   ⟸   NM_001425053
- Peptide Label: isoform 2
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411983   ⟸   NM_001425054
- Peptide Label: isoform 2
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411991   ⟸   NM_001425062
- Peptide Label: isoform 10
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL),   A0A8I5KXV4 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411985   ⟸   NM_001425056
- Peptide Label: isoform 5
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411987   ⟸   NM_001425058
- Peptide Label: isoform 7
- UniProtKB: F5H345 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411990   ⟸   NM_001425061
- Peptide Label: isoform 9
- UniProtKB: F5H345 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411986   ⟸   NM_001425057
- Peptide Label: isoform 6
- UniProtKB: A0A3B3IRR1 (UniProtKB/TrEMBL),   A0A3F2YNY7 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411988   ⟸   NM_001425059
- Peptide Label: isoform 8
- UniProtKB: F5H345 (UniProtKB/TrEMBL)
RefSeq Acc Id: NP_001411994   ⟸   NM_001425065
- Peptide Label: isoform 11
- UniProtKB: F5H345 (UniProtKB/TrEMBL)
Protein Domains
Porphobilinogen deaminase C-terminal   Porphobilinogen deaminase N-terminal

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P08397-F1-model_v2 AlphaFold P08397 1-361 view protein structure

Promoters
RGD ID:6789232
Promoter ID:HG_KWN:14361
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   CD4+TCell_2Hour,   HeLa_S3,   Jurkat,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_000190,   UC001PVA.1,   UC001PVB.1,   UC001PVC.1,   UC001PVD.1,   UC001PVE.1,   UC009ZAO.1,   UC009ZAP.1
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,460,609 - 118,461,109 (+)MPROMDB
RGD ID:6849788
Promoter ID:EP26007
Type:initiation region
Name:HS_HMBS_1
Description:Porphobilinogen deaminase housekeeping-type promoter.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #1 of 2; 5' exon 1; site 1.; see alsoEP26008  
Tissues & Cell Lines:ubiquitous
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,460,810 - 118,460,870EPD
RGD ID:6788984
Promoter ID:HG_KWN:14362
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:K562
Transcripts:NM_001024382
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,463,591 - 118,464,091 (+)MPROMDB
RGD ID:6849790
Promoter ID:EP26008
Type:single initiation site
Name:HS_HMBS_2
Description:Porphobilinogen deaminase erythroid cell-specific.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:alternative promoter #2 of 2; 5' exon 2; site 1.; see alsoEP26007  
Tissues & Cell Lines:erythroid cells
Experiment Methods:Nuclease protection; Primer extension
Position:
Human AssemblyChrPosition (strand)Source
Build 3611118,463,906 - 118,463,966EPD
RGD ID:7222375
Promoter ID:EPDNEW_H16933
Type:initiation region
Name:HMBS_1
Description:hydroxymethylbilane synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16934  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,084,893 - 119,084,953EPDNEW
RGD ID:7222377
Promoter ID:EPDNEW_H16934
Type:initiation region
Name:HMBS_2
Description:hydroxymethylbilane synthase
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16933  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh3811119,087,987 - 119,088,047EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:4982 AgrOrtholog
COSMIC HMBS COSMIC
Ensembl Genes ENSG00000256269 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000392841 ENTREZGENE
  ENST00000392841.1 UniProtKB/Swiss-Prot
  ENST00000442944 ENTREZGENE
  ENST00000442944.7 UniProtKB/TrEMBL
  ENST00000535253.5 UniProtKB/TrEMBL
  ENST00000535793.5 UniProtKB/TrEMBL
  ENST00000536813.6 UniProtKB/TrEMBL
  ENST00000537841 ENTREZGENE
  ENST00000537841.5 UniProtKB/Swiss-Prot
  ENST00000542729 ENTREZGENE
  ENST00000542729.5 UniProtKB/Swiss-Prot
  ENST00000542822.5 UniProtKB/TrEMBL
  ENST00000543090 ENTREZGENE
  ENST00000543090.5 UniProtKB/TrEMBL
  ENST00000544387 ENTREZGENE
  ENST00000544387.5 UniProtKB/Swiss-Prot
  ENST00000545621.5 UniProtKB/TrEMBL
  ENST00000546302.6 UniProtKB/TrEMBL
  ENST00000640813.1 UniProtKB/TrEMBL
  ENST00000648026.1 UniProtKB/TrEMBL
  ENST00000648374 ENTREZGENE
  ENST00000648374.1 UniProtKB/Swiss-Prot
  ENST00000648488.1 UniProtKB/TrEMBL
  ENST00000649868.1 UniProtKB/TrEMBL
  ENST00000650101 ENTREZGENE
  ENST00000650101.1 UniProtKB/TrEMBL
  ENST00000652429 ENTREZGENE
  ENST00000652429.1 UniProtKB/Swiss-Prot
  ENST00000686218 ENTREZGENE
  ENST00000686218.1 UniProtKB/TrEMBL
Gene3D-CATH 3.30.160.40 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000256269 GTEx
HGNC ID HGNC:4982 ENTREZGENE
Human Proteome Map HMBS Human Proteome Map
InterPro HemC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_cofac_BS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilin_deaminase_N UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobilinogen_deaminase_C_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:3145 UniProtKB/Swiss-Prot
NCBI Gene 3145 ENTREZGENE
OMIM 609806 OMIM
PANTHER PORPHOBILINOGEN DEAMINASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11557 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Porphobil_deam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Porphobil_deamC UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA29317 PharmGKB
PIRSF 4pyrrol_synth_OHMeBilane_synth UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PRINTS PORPHBDMNASE UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE PORPHOBILINOGEN_DEAM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP Periplasmic binding protein-like II UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  SSF54782 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A1W2PNU5_HUMAN UniProtKB/TrEMBL
  A0A3B3IRR1 ENTREZGENE, UniProtKB/TrEMBL
  A0A3B3IT17_HUMAN UniProtKB/TrEMBL
  A0A3B3IU34_HUMAN UniProtKB/TrEMBL
  A0A3B3IU56_HUMAN UniProtKB/TrEMBL
  A0A3F2YNY7 ENTREZGENE, UniProtKB/TrEMBL
  A0A8I5KXV4 ENTREZGENE, UniProtKB/TrEMBL
  A8K2L0 ENTREZGENE
  B5U9V4_HUMAN UniProtKB/TrEMBL
  F1DBF3_HUMAN UniProtKB/TrEMBL
  F5GY90_HUMAN UniProtKB/TrEMBL
  F5H0P4_HUMAN UniProtKB/TrEMBL
  F5H226_HUMAN UniProtKB/TrEMBL
  F5H345 ENTREZGENE, UniProtKB/TrEMBL
  F5H4W5_HUMAN UniProtKB/TrEMBL
  F5H4X2_HUMAN UniProtKB/TrEMBL
  F5H4Y7_HUMAN UniProtKB/TrEMBL
  G3V1P4 ENTREZGENE
  G5EA58 ENTREZGENE
  HEM3_HUMAN UniProtKB/Swiss-Prot
  P08396 ENTREZGENE
  P08397 ENTREZGENE
  Q0G847_HUMAN UniProtKB/TrEMBL
  Q16012 ENTREZGENE
  X5FSX0_HUMAN UniProtKB/TrEMBL
UniProt Secondary A8K2L0 UniProtKB/Swiss-Prot
  G3V1P4 UniProtKB/Swiss-Prot
  G5EA58 UniProtKB/Swiss-Prot
  P08396 UniProtKB/Swiss-Prot
  Q16012 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-04 HMBS  hydroxymethylbilane synthase  PORC  porphyria, acute; Chester type  Data merged from RGD:1343900 737654 PROVISIONAL