SERPINH1 (serpin family H member 1) - Rat Genome Database

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Gene: SERPINH1 (serpin family H member 1) Homo sapiens
Analyze
Symbol: SERPINH1
Name: serpin family H member 1
RGD ID: 732731
HGNC Page HGNC:1546
Description: Enables RNA binding activity. Predicted to be involved in collagen fibril organization. Predicted to act upstream of or within chondrocyte development involved in endochondral bone morphogenesis; collagen biosynthetic process; and protein maturation. Located in endoplasmic reticulum; endoplasmic reticulum-Golgi intermediate compartment; and membrane raft. Implicated in osteogenesis imperfecta type 10 and preterm premature rupture of the membranes. Biomarker of liver cirrhosis.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: 47 kDa heat shock protein; arsenic-transactivated protein 3; AsTP3; CBP1; CBP2; cell proliferation-inducing gene 14 protein; collagen binding protein 1; collagen-binding protein; colligin; colligin-1; colligin-2; gp46; heat shock protein 47; HSP47; OI10; PIG14; PPROM; proliferation-inducing gene 14; RA-A47; rheumatoid arthritis antigen A-47; rheumatoid arthritis-related antigen RA-A47; serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); serine (or cysteine) proteinase inhibitor, clade H (heat shock protein 47), member 2, (collagen-binding protein 2); serine (or cysteine) proteinase inhibitor, clade h, member 1; serpin H1; serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1); SERPINH2
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Orthologs
More Info more info ...
Related Pseudogenes: SERPINH1P1  
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381175,562,253 - 75,572,783 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1175,562,056 - 75,572,783 (+)EnsemblGRCh38hg38GRCh38
GRCh371175,273,298 - 75,283,828 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361174,950,818 - 74,961,494 (+)NCBINCBI36Build 36hg18NCBI36
Build 341174,950,817 - 74,961,492NCBI
Celera1172,580,950 - 72,591,621 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1171,570,181 - 71,580,924 (+)NCBIHuRef
CHM1_11175,156,705 - 75,167,451 (+)NCBICHM1_1
T2T-CHM13v2.01175,491,520 - 75,502,159 (+)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(R)-lipoic acid  (ISO)
(R)-noradrenaline  (ISO)
(S)-amphetamine  (ISO)
(S)-nicotine  (EXP)
1,2-dimethylhydrazine  (ISO)
1-naphthyl isothiocyanate  (ISO)
17alpha-ethynylestradiol  (ISO)
17beta-estradiol  (EXP,ISO)
2,2',4,4'-Tetrabromodiphenyl ether  (ISO)
2,3,7,8-tetrachlorodibenzodioxine  (ISO)
2,4-dibromophenyl 2,4,5-tribromophenyl ether  (ISO)
2,6-di-tert-butyl-4-methylphenol  (ISO)
2,6-dimethoxyphenol  (EXP)
2-amino-14,16-dimethyloctadecan-3-ol  (EXP)
2-amino-2-deoxy-D-glucopyranose  (EXP)
2-butoxyethanol  (ISO)
3-chloropropane-1,2-diol  (ISO)
4,4'-diaminodiphenylmethane  (ISO)
4,4'-sulfonyldiphenol  (EXP,ISO)
4-hydroxyphenyl retinamide  (ISO)
6-propyl-2-thiouracil  (ISO)
acetamide  (ISO)
acrylamide  (EXP)
aflatoxin B1  (EXP)
alachlor  (ISO)
aldehydo-D-glucosamine  (EXP)
alendronic acid  (ISO)
all-trans-retinoic acid  (EXP,ISO)
aluminium oxide  (EXP)
amitrole  (ISO)
ammonium chloride  (ISO)
arsane  (EXP)
arsenic atom  (EXP)
arsenite(3-)  (ISO)
arsenous acid  (EXP)
atrazine  (EXP)
benazepril  (ISO)
benzo[a]pyrene  (EXP)
beta-D-glucosamine  (EXP)
beta-lapachone  (EXP)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol AF  (EXP)
Bisphenol B  (EXP)
bisphenol F  (EXP,ISO)
bleomycin A2  (ISO)
cadmium atom  (EXP,ISO)
cadmium dichloride  (EXP)
cadmium sulfate  (ISO)
calciol  (ISO)
carbon nanotube  (ISO)
carvedilol  (ISO)
celecoxib  (ISO)
chloropicrin  (EXP)
chloroprene  (ISO)
chlorpromazine  (ISO)
chromium(6+)  (ISO)
cisplatin  (EXP)
clofibrate  (ISO)
cobalt dichloride  (EXP)
copper atom  (EXP,ISO)
copper(0)  (EXP,ISO)
copper(II) sulfate  (EXP)
Cuprizon  (ISO)
curcumin  (ISO)
cyanocob(III)alamin  (ISO)
cyclosporin A  (EXP)
cytarabine  (EXP)
DDE  (EXP)
Diallyl sulfide  (ISO)
diarsenic trioxide  (EXP)
Dibutyl phosphate  (EXP)
dibutyl phthalate  (ISO)
diclofenac  (ISO)
dioxygen  (EXP)
diuron  (ISO)
dorsomorphin  (EXP)
doxorubicin  (EXP)
endosulfan  (ISO)
ethanol  (ISO)
fenamidone  (ISO)
flavonoids  (ISO)
flutamide  (ISO)
furan  (ISO)
furfural  (EXP)
gentamycin  (ISO)
gold atom  (ISO)
gold(0)  (ISO)
hyaluronic acid  (ISO)
hydrogen peroxide  (ISO)
ivermectin  (EXP)
ketoconazole  (ISO)
levofloxacin  (ISO)
lipoic acid  (ISO)
lipopolysaccharide  (ISO)
methimazole  (ISO)
methotrexate  (EXP,ISO)
methyl methanesulfonate  (EXP)
N,N-diethyl-m-toluamide  (ISO)
N-acetyl-L-cysteine  (EXP)
N-nitrosodimethylamine  (ISO)
nickel atom  (EXP)
nickel sulfate  (EXP)
nicotine  (EXP)
oxaliplatin  (EXP,ISO)
paracetamol  (EXP,ISO)
paraquat  (ISO)
pentane-2,3-dione  (ISO)
permethrin  (ISO)
phenobarbital  (ISO)
PhIP  (ISO)
pirinixic acid  (ISO)
potassium dichromate  (EXP)
raloxifene  (ISO)
reactive oxygen species  (EXP)
resveratrol  (EXP,ISO)
rotenone  (ISO)
SB 203580  (EXP)
SB 431542  (EXP)
silver atom  (EXP)
silver(0)  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (EXP)
sodium fluoride  (ISO)
Soman  (ISO)
sorafenib  (ISO)
streptozocin  (ISO)
sunitinib  (ISO)
tamoxifen  (ISO)
tert-butyl hydroperoxide  (EXP)
tetrachloromethane  (EXP,ISO)
thapsigargin  (EXP)
thimerosal  (EXP)
thioacetamide  (ISO)
thiram  (EXP)
titanium dioxide  (EXP,ISO)
topotecan  (ISO)
Tributyltin oxide  (ISO)
trichostatin A  (EXP)
triphenyl phosphate  (EXP)
triptonide  (ISO)
tunicamycin  (EXP,ISO)
valproic acid  (EXP,ISO)
vinclozolin  (ISO)
wortmannin  (EXP)
zinc atom  (EXP)
zinc(0)  (EXP)
zoledronic acid  (EXP)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process

Cellular Component

Molecular Function

References

References - curated
# Reference Title Reference Citation
1. Therapeutic effect of 1,25(OH)2-VitaminD3 on fibrosis and angiogenesis of peritoneum induced by chlorhexidine. Da J, etal., Biomed Pharmacother. 2020 Sep;129:110431. doi: 10.1016/j.biopha.2020.110431. Epub 2020 Jun 22.
2. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
3. Involvement of heat shock protein 47 in Schistosoma japonicum-induced hepatic fibrosis in mice. Huang JQ, etal., Int J Parasitol. 2014 Jan;44(1):23-35. doi: 10.1016/j.ijpara.2013.08.009. Epub 2013 Dec 1.
4. Xiaochaihu decorction relieves liver fibrosis caused by Schistosoma japonicum infection via the HSP47/TGF-β pathway. Huang Y, etal., Parasit Vectors. 2020 May 14;13(1):254. doi: 10.1186/s13071-020-04121-2.
5. Expression of heat shock protein 47, transforming growth factor-beta 1, and connective tissue growth factor in liver tissue of patients with Schistosoma japonicum-induced hepatic fibrosis. Li L, etal., Parasitology. 2015 Feb;142(2):341-51. doi: 10.1017/S0031182014001115. Epub 2014 Aug 11.
6. Enhanced expression of heat shock protein 47 in rat model of peritoneal fibrosis. Mishima Y, etal., Perit Dial Int. 2003 Jan-Feb;23(1):14-22.
7. The human genome has only one functional hsp47 gene (CBP2) and a pseudogene (pshsp47). Nagai N, etal., Gene 1999 Feb 18;227(2):241-8.
8. Antisense oligonucleotides against collagen-binding stress protein HSP47 suppress peritoneal fibrosis in rats. Nishino T, etal., Kidney Int. 2003 Sep;64(3):887-96. doi: 10.1046/j.1523-1755.2003.00169.x.
9. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
10. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
11. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
12. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
13. [Roles of transforming growth factor - β1 and heat shock protein 47 in progression of Schistosoma japonicum-induced hepatic fibrosis]. Yong-Hua Z, etal., Zhongguo Xue Xi Chong Bing Fang Zhi Za Zhi. 2019 Sep 25;31(4):382-387. doi: 10.16250/j.32.1374.2018208.
14. TNP-470, an angiogenesis inhibitor, suppresses the progression of peritoneal fibrosis in mouse experimental model. Yoshio Y, etal., Kidney Int. 2004 Oct;66(4):1677-85. doi: 10.1111/j.1523-1755.2004.00935.x.
Additional References at PubMed
PMID:1309665   PMID:7656593   PMID:9272875   PMID:9533029   PMID:9588174   PMID:9687513   PMID:10227388   PMID:10506936   PMID:10862616   PMID:11052465   PMID:11106745   PMID:11162551  
PMID:11500849   PMID:11572868   PMID:11581402   PMID:11748222   PMID:11994473   PMID:12061838   PMID:12145293   PMID:12163502   PMID:12174873   PMID:12475206   PMID:12477932   PMID:12659832  
PMID:12824005   PMID:14702039   PMID:15047128   PMID:15247019   PMID:15308636   PMID:15389525   PMID:15489334   PMID:15635413   PMID:15806139   PMID:15955241   PMID:16169070   PMID:16171977  
PMID:16326708   PMID:16396496   PMID:16484215   PMID:16712791   PMID:16938879   PMID:17546044   PMID:17977830   PMID:18029348   PMID:18093617   PMID:18095990   PMID:18205191   PMID:18293509  
PMID:18818748   PMID:19019335   PMID:19067716   PMID:19322201   PMID:19341245   PMID:19527514   PMID:19531213   PMID:19578754   PMID:19603022   PMID:20043075   PMID:20112500   PMID:20701077  
PMID:20881960   PMID:21150319   PMID:21182205   PMID:21187648   PMID:21319273   PMID:21565611   PMID:21873635   PMID:21900206   PMID:22021425   PMID:22119785   PMID:22190034   PMID:22235129  
PMID:22268729   PMID:22304920   PMID:22354994   PMID:22586326   PMID:22658674   PMID:22863883   PMID:22939629   PMID:22967132   PMID:23049894   PMID:23097496   PMID:23125841   PMID:23265436  
PMID:23349634   PMID:23376485   PMID:23587601   PMID:23798571   PMID:24141696   PMID:24172014   PMID:24534724   PMID:24623841   PMID:24650661   PMID:24711643   PMID:24755837   PMID:25036637  
PMID:25037231   PMID:25204797   PMID:25281560   PMID:25429064   PMID:25510505   PMID:25744716   PMID:25758142   PMID:25921289   PMID:25953518   PMID:25963833   PMID:26091621   PMID:26209609  
PMID:26344197   PMID:26618866   PMID:26638075   PMID:26687479   PMID:26692483   PMID:26760575   PMID:26831064   PMID:26972000   PMID:27025967   PMID:27477081   PMID:27488440   PMID:27542412  
PMID:27591049   PMID:27677223   PMID:27684187   PMID:27706701   PMID:27777122   PMID:27925182   PMID:28177155   PMID:28179603   PMID:28327460   PMID:28366632   PMID:28515276   PMID:28675934  
PMID:28849239   PMID:28902428   PMID:29053956   PMID:29111377   PMID:29128334   PMID:29180619   PMID:29229926   PMID:29239102   PMID:29331416   PMID:29438711   PMID:29467282   PMID:29507755  
PMID:29512284   PMID:29564676   PMID:29568061   PMID:30002123   PMID:30021884   PMID:30092114   PMID:30097533   PMID:30153702   PMID:30459231   PMID:30463901   PMID:30541925   PMID:30575818  
PMID:30809309   PMID:30833792   PMID:30884312   PMID:30948266   PMID:30986427   PMID:31056421   PMID:31073040   PMID:31091453   PMID:31179625   PMID:31180492   PMID:31527615   PMID:31570520  
PMID:31586073   PMID:31620119   PMID:31664133   PMID:31980649   PMID:31995728   PMID:32015106   PMID:32091407   PMID:32102897   PMID:32149426   PMID:32203420   PMID:32235846   PMID:32239614  
PMID:32366908   PMID:32416067   PMID:32587773   PMID:32666439   PMID:32687490   PMID:32707033   PMID:32814053   PMID:32838362   PMID:32928242   PMID:32994395   PMID:32999266   PMID:33024031  
PMID:33053334   PMID:33111431   PMID:33239621   PMID:33306668   PMID:33545068   PMID:33644029   PMID:33658012   PMID:33661096   PMID:33961781   PMID:34079125   PMID:34109710   PMID:34185411  
PMID:34244565   PMID:34349018   PMID:34356607   PMID:34428256   PMID:34597346   PMID:34702444   PMID:34709727   PMID:34758305   PMID:34768968   PMID:34901782   PMID:34998932   PMID:35007762  
PMID:35013218   PMID:35063084   PMID:35124280   PMID:35227262   PMID:35256949   PMID:35271311   PMID:35356880   PMID:35384245   PMID:35439318   PMID:35446349   PMID:35509820   PMID:35562734  
PMID:35696571   PMID:35768471   PMID:35777956   PMID:35831314   PMID:35944360   PMID:36030824   PMID:36104825   PMID:36114006   PMID:36215168   PMID:36217030   PMID:36282215   PMID:36315987  
PMID:36371672   PMID:36397358   PMID:36424410   PMID:36470425   PMID:36517590   PMID:36526897   PMID:36574265   PMID:36607699   PMID:36610398   PMID:36736316   PMID:36931259   PMID:37249651  
PMID:37317656   PMID:37640791   PMID:37689310   PMID:37705046   PMID:37712121   PMID:37827155   PMID:37929963   PMID:37951979   PMID:38055382   PMID:38101577   PMID:38113892   PMID:38270169  
PMID:38432483   PMID:38569033   PMID:38580884   PMID:38963323   PMID:39098523   PMID:39147351  


Genomics

Comparative Map Data
SERPINH1
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381175,562,253 - 75,572,783 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p14 Ensembl1175,562,056 - 75,572,783 (+)EnsemblGRCh38hg38GRCh38
GRCh371175,273,298 - 75,283,828 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361174,950,818 - 74,961,494 (+)NCBINCBI36Build 36hg18NCBI36
Build 341174,950,817 - 74,961,492NCBI
Celera1172,580,950 - 72,591,621 (+)NCBICelera
Cytogenetic Map11q13.5NCBI
HuRef1171,570,181 - 71,580,924 (+)NCBIHuRef
CHM1_11175,156,705 - 75,167,451 (+)NCBICHM1_1
T2T-CHM13v2.01175,491,520 - 75,502,159 (+)NCBIT2T-CHM13v2.0
Serpinh1
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm39798,994,583 - 99,002,321 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl798,994,583 - 99,002,446 (-)EnsemblGRCm39 Ensembl
GRCm38799,345,375 - 99,353,239 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl799,345,376 - 99,353,239 (-)EnsemblGRCm38mm10GRCm38
MGSCv377106,493,885 - 106,501,749 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv36799,219,459 - 99,227,179 (-)NCBIMGSCv36mm8
Celera799,670,192 - 99,678,104 (-)NCBICelera
Cytogenetic Map7E1NCBI
cM Map754.07NCBI
Serpinh1
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCr81163,055,630 - 163,063,177 (-)NCBIGRCr8
mRatBN7.21153,643,500 - 153,650,853 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1153,643,510 - 153,650,801 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1161,639,548 - 161,646,892 (-)NCBIRnor_SHRUTH_Rnor_SHR_Utx
UTH_Rnor_SHRSP_BbbUtx_1.01168,819,703 - 168,827,047 (-)NCBIRnor_SHRSPUTH_Rnor_SHRSP_BbbUtx_1.0
UTH_Rnor_WKY_Bbb_1.01161,693,225 - 161,700,569 (-)NCBIRnor_WKYUTH_Rnor_WKY_Bbb_1.0
Rnor_6.01164,301,010 - 164,308,306 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1164,301,010 - 164,308,317 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01170,503,468 - 170,510,764 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41156,666,914 - 156,674,210 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11156,745,319 - 156,752,617 (-)NCBI
Celera1151,727,297 - 151,734,593 (-)NCBICelera
Cytogenetic Map1q32NCBI
Serpinh1
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495541416,284,845 - 16,292,963 (-)EnsemblChiLan1.0
ChiLan1.0NW_00495541416,284,845 - 16,292,828 (-)NCBIChiLan1.0ChiLan1.0
SERPINH1
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
NHGRI_mPanPan1-v2976,486,335 - 76,503,355 (+)NCBINHGRI_mPanPan1-v2
NHGRI_mPanPan11177,528,934 - 77,545,958 (+)NCBINHGRI_mPanPan1
Mhudiblu_PPA_v01170,621,893 - 70,632,570 (+)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
PanPan1.11173,922,617 - 73,933,379 (+)NCBIpanpan1.1PanPan1.1panPan2
SERPINH1
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12123,032,761 - 23,041,649 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2123,032,767 - 23,041,625 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2122,798,470 - 22,807,285 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02123,235,602 - 23,244,497 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2123,235,605 - 23,244,400 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12123,034,077 - 23,042,936 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02123,230,397 - 23,239,216 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02123,148,229 - 23,157,093 (-)NCBIUU_Cfam_GSD_1.0
Serpinh1
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_02440494762,742,342 - 62,751,791 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049364984,341,899 - 4,351,524 (+)EnsemblSpeTri2.0SpeTri2.0 Ensembl
SpeTri2.0NW_0049364984,341,944 - 4,351,432 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
SERPINH1
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl99,783,042 - 9,794,483 (+)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.199,782,939 - 9,794,485 (+)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.2910,966,800 - 10,977,248 (+)NCBISscrofa10.2Sscrofa10.2susScr3
SERPINH1
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1166,787,978 - 66,798,930 (+)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl166,788,240 - 66,799,072 (+)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604359,006,758 - 59,017,494 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Serpinh1
(Heterocephalus glaber - naked mole-rat)
Naked Mole-Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_0046248171,561,471 - 1,570,947 (-)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_0046248171,561,471 - 1,570,425 (-)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in SERPINH1
222 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001235.5(SERPINH1):c.233T>C (p.Leu78Pro) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000023052] Chr11:75566582 [GRCh38]
Chr11:75277627 [GRCh37]
Chr11:11q13.5
pathogenic
NC_000011.10:g.75561608C>T single nucleotide variant Preterm premature rupture of membranes [RCV000009196] Chr11:75561608 [GRCh38]
Chr11:75272653 [GRCh37]
Chr11:11q13.5
pathogenic
NM_001235.5(SERPINH1):c.547G>T (p.Gly183Cys) single nucleotide variant not provided [RCV000723076] Chr11:75566896 [GRCh38]
Chr11:75277941 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.829C>A (p.Pro277Thr) single nucleotide variant not provided [RCV000729904] Chr11:75569046 [GRCh38]
Chr11:75280091 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.436T>C (p.Phe146Leu) single nucleotide variant not provided [RCV000722731] Chr11:75566785 [GRCh38]
Chr11:75277830 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.81_95dup (p.Ala29_Ala33dup) duplication not provided [RCV000722420] Chr11:75566428..75566429 [GRCh38]
Chr11:75277473..75277474 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh38/hg38 11q13.4-14.1(chr11:71923251-79662025)x1 copy number loss Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052684]|See cases [RCV000052684] Chr11:71923251..79662025 [GRCh38]
Chr11:71634297..79373069 [GRCh37]
Chr11:71311945..79050717 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1 copy number loss See cases [RCV000052708] Chr11:71928796..77064521 [GRCh38]
Chr11:71639842..76751808 [GRCh37]
Chr11:71317490..76453216 [NCBI36]
Chr11:11q13.4-13.5
pathogenic
GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1 copy number loss See cases [RCV000052709] Chr11:71969881..78232895 [GRCh38]
Chr11:71680927..77943941 [GRCh37]
Chr11:71358575..77621589 [NCBI36]
Chr11:11q13.4-14.1
pathogenic
NM_001235.3(SERPINH1):c.818A>T (p.His273Leu) single nucleotide variant Malignant melanoma [RCV000069693] Chr11:75569035 [GRCh38]
Chr11:75280080 [GRCh37]
Chr11:74957728 [NCBI36]
Chr11:11q13.5
not provided
NM_001235.3(SERPINH1):c.1136C>T (p.Pro379Leu) single nucleotide variant Malignant melanoma [RCV000069694] Chr11:75571962 [GRCh38]
Chr11:75283007 [GRCh37]
Chr11:74960655 [NCBI36]
Chr11:11q13.5
not provided
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000395933]|not provided [RCV001812155]|not specified [RCV000175690] Chr11:75566712 [GRCh38]
Chr11:75277757 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.234A>G (p.Leu78=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000293020]|not provided [RCV002054071]|not specified [RCV000175691] Chr11:75566583 [GRCh38]
Chr11:75277628 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.721+9T>C single nucleotide variant Osteogenesis imperfecta [RCV002277389]|Osteogenesis imperfecta type 10 [RCV000329748]|not provided [RCV000971578]|not specified [RCV000177129] Chr11:75568838 [GRCh38]
Chr11:75279883 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=) single nucleotide variant Osteogenesis imperfecta [RCV002277398]|Osteogenesis imperfecta type 10 [RCV000388996]|not provided [RCV000757756]|not specified [RCV000178158] Chr11:75568961 [GRCh38]
Chr11:75280006 [GRCh37]
Chr11:11q13.5
benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.710T>C (p.Met237Thr) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000256253]|not provided [RCV002521861] Chr11:75568818 [GRCh38]
Chr11:75279863 [GRCh37]
Chr11:11q13.5
pathogenic|likely pathogenic|uncertain significance
NM_001235.5(SERPINH1):c.579_580delinsCA (p.Glu193_Arg194delinsAspSer) indel not provided [RCV000175689] Chr11:75566928..75566929 [GRCh38]
Chr11:75277973..75277974 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.579G>C (p.Glu193Asp) single nucleotide variant not provided [RCV000175692] Chr11:75566928 [GRCh38]
Chr11:75277973 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.580C>A (p.Arg194Ser) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000261310]|Preterm premature rupture of membranes [RCV000763776]|SERPINH1-related disorder [RCV004757153]|not provided [RCV000175693]|not specified [RCV003330534] Chr11:75566929 [GRCh38]
Chr11:75277974 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.1051G>A (p.Val351Met) single nucleotide variant not provided [RCV000178839] Chr11:75571877 [GRCh38]
Chr11:75282922 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.92G>C (p.Gly31Ala) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000387403]|SERPINH1-related disorder [RCV003949952]|not provided [RCV000343777] Chr11:75566441 [GRCh38]
Chr11:75277486 [GRCh37]
Chr11:11q13.5
benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.267G>A (p.Thr89=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000352675]|not provided [RCV000836174]|not specified [RCV000286015] Chr11:75566616 [GRCh38]
Chr11:75277661 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_001235.5(SERPINH1):c.140_141delinsTT (p.Ser47Ile) indel not provided [RCV000521163] Chr11:75566489..75566490 [GRCh38]
Chr11:75277534..75277535 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*4C>G single nucleotide variant Osteogenesis imperfecta [RCV002278388]|Osteogenesis imperfecta type 10 [RCV000283052]|not provided [RCV000597480] Chr11:75572087 [GRCh38]
Chr11:75283132 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1016G>A (p.Arg339His) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000346063] Chr11:75571842 [GRCh38]
Chr11:75282887 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*490G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000395632] Chr11:75572573 [GRCh38]
Chr11:75283618 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_001235.5(SERPINH1):c.*668A>T single nucleotide variant Osteogenesis imperfecta type 10 [RCV000269186] Chr11:75572751 [GRCh38]
Chr11:75283796 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000306124]|not provided [RCV001558810] Chr11:75566841 [GRCh38]
Chr11:75277886 [GRCh37]
Chr11:11q13.5
benign|likely benign|uncertain significance
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000289650]|not provided [RCV000757755] Chr11:75566685 [GRCh38]
Chr11:75277730 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1011G>A (p.Leu337=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000291222]|not provided [RCV002056242]|not specified [RCV000613505] Chr11:75571837 [GRCh38]
Chr11:75282882 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.*531C>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000275026] Chr11:75572614 [GRCh38]
Chr11:75283659 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.807C>T (p.Ile269=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000275743] Chr11:75569024 [GRCh38]
Chr11:75280069 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.955-6C>A single nucleotide variant Osteogenesis imperfecta [RCV002278387]|Osteogenesis imperfecta type 10 [RCV000380941]|not provided [RCV000960114]|not specified [RCV000606028] Chr11:75571775 [GRCh38]
Chr11:75282820 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_001235.5(SERPINH1):c.298G>A (p.Glu100Lys) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000403806]|not provided [RCV001396318] Chr11:75566647 [GRCh38]
Chr11:75277692 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.*354G>T single nucleotide variant Osteogenesis imperfecta type 10 [RCV000334728] Chr11:75572437 [GRCh38]
Chr11:75283482 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*556G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000313815] Chr11:75572639 [GRCh38]
Chr11:75283684 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.693C>T (p.Thr231=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000262588]|not provided [RCV002056241]|not specified [RCV000607568] Chr11:75568801 [GRCh38]
Chr11:75279846 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.481A>C (p.Ile161Leu) single nucleotide variant Inborn genetic diseases [RCV002520765]|Osteogenesis imperfecta [RCV002278386]|Osteogenesis imperfecta type 10 [RCV000359789]|not provided [RCV002056239] Chr11:75566830 [GRCh38]
Chr11:75277875 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000316513]|not provided [RCV001812790]|not specified [RCV000600360] Chr11:75566947 [GRCh38]
Chr11:75277992 [GRCh37]
Chr11:11q13.5
benign
NM_001235.3(SERPINH1):c.-189G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000317057] Chr11:75562165 [GRCh38]
Chr11:75273210 [GRCh37]
Chr11:11q13.5
benign|uncertain significance
NM_001235.5(SERPINH1):c.-73G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000281729]|not provided [RCV004706845] Chr11:75562281 [GRCh38]
Chr11:75273326 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_001235.5(SERPINH1):c.-19C>T single nucleotide variant Osteogenesis imperfecta type 10 [RCV000318122]|not provided [RCV004708204]|not specified [RCV000615238] Chr11:75566331 [GRCh38]
Chr11:75277376 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_001235.5(SERPINH1):c.*228A>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000298435] Chr11:75572311 [GRCh38]
Chr11:75283356 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*525C>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000367363]|not provided [RCV004708205] Chr11:75572608 [GRCh38]
Chr11:75283653 [GRCh37]
Chr11:11q13.5
benign
NM_001235.3(SERPINH1):c.-268delA deletion Osteogenesis Imperfecta, Recessive [RCV000320447] Chr11:75562086 [GRCh38]
Chr11:75273131 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.*125A>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000342722]|not provided [RCV001672460] Chr11:75572208 [GRCh38]
Chr11:75283253 [GRCh37]
Chr11:11q13.5
benign
NM_001235.3(SERPINH1):c.-191A>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000266328] Chr11:75562163 [GRCh38]
Chr11:75273208 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.346C>A (p.Arg116Ser) single nucleotide variant Osteogenesis Imperfecta, Recessive [RCV000344667]|not provided [RCV001171662] Chr11:75566695 [GRCh38]
Chr11:75277740 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.716G>T (p.Arg239Leu) single nucleotide variant not provided [RCV000376278] Chr11:75568824 [GRCh38]
Chr11:75279869 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*580T>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000370697] Chr11:75572663 [GRCh38]
Chr11:75283708 [GRCh37]
Chr11:11q13.5
benign|uncertain significance
NM_001235.5(SERPINH1):c.*179A>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV000395595] Chr11:75572262 [GRCh38]
Chr11:75283307 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.961del (p.Leu321fs) deletion not provided [RCV000343835] Chr11:75571786 [GRCh38]
Chr11:75282831 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*678del deletion Osteogenesis Imperfecta, Recessive [RCV000326405] Chr11:75572752 [GRCh38]
Chr11:75283797 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.823G>A (p.Val275Met) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000326079]|not provided [RCV001850624] Chr11:75569040 [GRCh38]
Chr11:75280085 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1208T>C (p.Ile403Thr) single nucleotide variant Inborn genetic diseases [RCV003258753]|Osteogenesis imperfecta type 10 [RCV000377379] Chr11:75572034 [GRCh38]
Chr11:75283079 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.486C>G (p.Asn162Lys) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000402192] Chr11:75566835 [GRCh38]
Chr11:75277880 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.600A>C (p.Leu200=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000357410]|not provided [RCV002056240] Chr11:75566949 [GRCh38]
Chr11:75277994 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.3(SERPINH1):c.-211G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000361159] Chr11:75562143 [GRCh38]
Chr11:75273188 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.573C>A (p.Asp191Glu) single nucleotide variant Inborn genetic diseases [RCV003343769]|Osteogenesis imperfecta type 10 [RCV000360883]|not provided [RCV002522206] Chr11:75566922 [GRCh38]
Chr11:75277967 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.480G>C (p.Lys160Asn) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000309167] Chr11:75566829 [GRCh38]
Chr11:75277874 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.3(SERPINH1):c.-185T>C single nucleotide variant Osteogenesis imperfecta type 10 [RCV000371642] Chr11:75562169 [GRCh38]
Chr11:75273214 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*511G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV000300988] Chr11:75572594 [GRCh38]
Chr11:75283639 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1214G>A (p.Arg405His) single nucleotide variant Osteogenesis imperfecta type 10 [RCV000656724] Chr11:75572040 [GRCh38]
Chr11:75283085 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.765C>T (p.Ile255=) single nucleotide variant not provided [RCV000598176] Chr11:75568982 [GRCh38]
Chr11:75280027 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.827A>C (p.Glu276Ala) single nucleotide variant not provided [RCV000757757] Chr11:75569044 [GRCh38]
Chr11:75280089 [GRCh37]
Chr11:11q13.5
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
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001113293]|not provided [RCV000506069] Chr11:75566914 [GRCh38]
Chr11:75277959 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
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_001235.5(SERPINH1):c.661A>T (p.Asn221Tyr) single nucleotide variant Inborn genetic diseases [RCV003241840] Chr11:75568769 [GRCh38]
Chr11:75279814 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3 copy number gain not provided [RCV000683374] Chr11:71588805..116680918 [GRCh37]
Chr11:11q13.4-23.3
pathogenic
NM_001235.5(SERPINH1):c.722-13G>A single nucleotide variant not provided [RCV001566701]|not specified [RCV003399377] Chr11:75568926 [GRCh38]
Chr11:75279971 [GRCh37]
Chr11:11q13.5
benign|likely benign
GRCh37/hg19 11p15.5-q25(chr11:198510-134934063)x3 copy number gain not provided [RCV000737348] Chr11:198510..134934063 [GRCh37]
Chr11:11p15.5-q25
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
NM_001235.5(SERPINH1):c.622+257A>G single nucleotide variant not provided [RCV001581874] Chr11:75567228 [GRCh38]
Chr11:75278273 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.658G>A (p.Asp220Asn) single nucleotide variant not provided [RCV001812933] Chr11:75568766 [GRCh38]
Chr11:75279811 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.214G>A (p.Val72Met) single nucleotide variant Inborn genetic diseases [RCV003267436] Chr11:75566563 [GRCh38]
Chr11:75277608 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.168G>A (p.Gln56=) single nucleotide variant not provided [RCV000923600] Chr11:75566517 [GRCh38]
Chr11:75277562 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.10:g.75554407_75559680del deletion Osteogenesis imperfecta type 10 [RCV000779626] Chr11:75554407..75559680 [GRCh38]
Chr11:75265452..75270725 [GRCh37]
Chr11:11q13.5
pathogenic
NM_001235.5(SERPINH1):c.1233dup (p.Asp412Ter) duplication Osteogenesis imperfecta type 10 [RCV000779627] Chr11:75572058..75572059 [GRCh38]
Chr11:75283103..75283104 [GRCh37]
Chr11:11q13.5
pathogenic
NM_001235.5(SERPINH1):c.918del (p.Leu306fs) deletion Osteogenesis imperfecta type 10 [RCV000778338] Chr11:75569135 [GRCh38]
Chr11:75280180 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.150G>A (p.Leu50=) single nucleotide variant not provided [RCV000915600] Chr11:75566499 [GRCh38]
Chr11:75277544 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.714C>T (p.His238=) single nucleotide variant not provided [RCV000940608] Chr11:75568822 [GRCh38]
Chr11:75279867 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.861A>G (p.Lys287=) single nucleotide variant not provided [RCV000927560] Chr11:75569078 [GRCh38]
Chr11:75280123 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.-34-103G>A single nucleotide variant not provided [RCV000836178] Chr11:75566213 [GRCh38]
Chr11:75277258 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.623-237C>T single nucleotide variant not provided [RCV000826366] Chr11:75568494 [GRCh38]
Chr11:75279539 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.27C>T (p.Ala9=) single nucleotide variant not provided [RCV000841899] Chr11:75566376 [GRCh38]
Chr11:75277421 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.954+262T>A single nucleotide variant not provided [RCV000826367] Chr11:75569433 [GRCh38]
Chr11:75280478 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.839G>A (p.Arg280His) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001114659]|not provided [RCV002556246] Chr11:75569056 [GRCh38]
Chr11:75280101 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*536C>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV001113384]|not provided [RCV004693689] Chr11:75572619 [GRCh38]
Chr11:75283664 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*668A>G single nucleotide variant Osteogenesis imperfecta type 10 [RCV001113385] Chr11:75572751 [GRCh38]
Chr11:75283796 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1042C>T (p.Leu348=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109024] Chr11:75571868 [GRCh38]
Chr11:75282913 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1113C>T (p.Tyr371=) single nucleotide variant not provided [RCV000914640] Chr11:75571939 [GRCh38]
Chr11:75282984 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.831T>C (p.Pro277=) single nucleotide variant not provided [RCV000916813] Chr11:75569048 [GRCh38]
Chr11:75280093 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.188C>T (p.Ala63Val) single nucleotide variant Osteogenesis imperfecta [RCV002279610]|SERPINH1-related disorder [RCV003975581]|not provided [RCV000886184]|not specified [RCV004702504] Chr11:75566537 [GRCh38]
Chr11:75277582 [GRCh37]
Chr11:11q13.5
benign|likely benign
NM_001235.5(SERPINH1):c.915C>T (p.Ser305=) single nucleotide variant SERPINH1-related disorder [RCV003962845]|not provided [RCV000968224] Chr11:75569132 [GRCh38]
Chr11:75280177 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.51G>C (p.Leu17=) single nucleotide variant not provided [RCV000886297] Chr11:75566400 [GRCh38]
Chr11:75277445 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.160T>C (p.Leu54=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001108923]|not provided [RCV000908135] Chr11:75566509 [GRCh38]
Chr11:75277554 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.1219G>C (p.Val407Leu) single nucleotide variant not provided [RCV000909548] Chr11:75572045 [GRCh38]
Chr11:75283090 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_001235.5(SERPINH1):c.588C>T (p.Asp196=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001113294] Chr11:75566937 [GRCh38]
Chr11:75277982 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109026]|SERPINH1-related disorder [RCV003975618]|not provided [RCV000890514]|not specified [RCV001002308] Chr11:75571945 [GRCh38]
Chr11:75282990 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.622+228C>T single nucleotide variant not provided [RCV001567621] Chr11:75567199 [GRCh38]
Chr11:75278244 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.-34-99C>T single nucleotide variant not provided [RCV001569010] Chr11:75566217 [GRCh38]
Chr11:75277262 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.432T>G (p.Asp144Glu) single nucleotide variant Inborn genetic diseases [RCV003276250] Chr11:75566781 [GRCh38]
Chr11:75277826 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.622+25TCC[6] microsatellite Osteogenesis imperfecta type 10 [RCV001807514]|not provided [RCV001716416] Chr11:75566995..75566996 [GRCh38]
Chr11:75278040..75278041 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.*74G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV001111377] Chr11:75572157 [GRCh38]
Chr11:75283202 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.*117G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV001111378] Chr11:75572200 [GRCh38]
Chr11:75283245 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.*153G>A single nucleotide variant Osteogenesis imperfecta type 10 [RCV001111379] Chr11:75572236 [GRCh38]
Chr11:75283281 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1059C>T (p.His353=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109025]|not provided [RCV001811661] Chr11:75571885 [GRCh38]
Chr11:75282930 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.*73G>T single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109029] Chr11:75572156 [GRCh38]
Chr11:75283201 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.58G>A (p.Glu20Lys) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001108921] Chr11:75566407 [GRCh38]
Chr11:75277452 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.139A>G (p.Ser47Gly) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001108922] Chr11:75566488 [GRCh38]
Chr11:75277533 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1152C>T (p.Ala384=) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109027]|not provided [RCV002556130] Chr11:75571978 [GRCh38]
Chr11:75283023 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
NM_001235.5(SERPINH1):c.1178G>A (p.Arg393Gln) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001109028] Chr11:75572004 [GRCh38]
Chr11:75283049 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.339G>C (p.Glu113Asp) single nucleotide variant Osteogenesis imperfecta type 10 [RCV001111285] Chr11:75566688 [GRCh38]
Chr11:75277733 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.622+223G>C single nucleotide variant not provided [RCV001587150] Chr11:75567194 [GRCh38]
Chr11:75278239 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1222C>T (p.Arg408Trp) single nucleotide variant not provided [RCV003222189]|not specified [RCV001002034] Chr11:75572048 [GRCh38]
Chr11:75283093 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.622+276A>G single nucleotide variant not provided [RCV001641549] Chr11:75567247 [GRCh38]
Chr11:75278292 [GRCh37]
Chr11:11q13.5
benign
Single allele deletion Intellectual disability [RCV001293382] Chr11:118359328..118372573 [GRCh37]
Chr11:11p15.3-q23.3
pathogenic
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro) single nucleotide variant not provided [RCV001429639] Chr11:75566446 [GRCh38]
Chr11:75277491 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.54C>T (p.Ala18=) single nucleotide variant not provided [RCV003108378] Chr11:75566403 [GRCh38]
Chr11:75277448 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.370C>T (p.Arg124Cys) single nucleotide variant Osteogenesis imperfecta [RCV002277844] Chr11:75566719 [GRCh38]
Chr11:75277764 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.293G>A (p.Ser98Asn) single nucleotide variant not provided [RCV001774897] Chr11:75566642 [GRCh38]
Chr11:75277687 [GRCh37]
Chr11:11q13.5
conflicting interpretations of pathogenicity|uncertain significance
NM_001235.5(SERPINH1):c.1214G>T (p.Arg405Leu) single nucleotide variant not provided [RCV001767921] Chr11:75572040 [GRCh38]
Chr11:75283085 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.655G>A (p.Val219Met) single nucleotide variant not provided [RCV001759220] Chr11:75568763 [GRCh38]
Chr11:75279808 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.94A>G (p.Thr32Ala) single nucleotide variant not provided [RCV002044882] Chr11:75566443 [GRCh38]
Chr11:75277488 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.365C>T (p.Thr122Met) single nucleotide variant not provided [RCV001908335] Chr11:75566714 [GRCh38]
Chr11:75277759 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1223G>A (p.Arg408Gln) single nucleotide variant Inborn genetic diseases [RCV004041899]|not provided [RCV001950095] Chr11:75572049 [GRCh38]
Chr11:75283094 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.547G>C (p.Gly183Arg) single nucleotide variant not provided [RCV001895663] Chr11:75566896 [GRCh38]
Chr11:75277941 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.305T>A (p.Leu102Gln) single nucleotide variant not provided [RCV001870793] Chr11:75566654 [GRCh38]
Chr11:75277699 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.375C>G (p.Asn125Lys) single nucleotide variant not provided [RCV002042366] Chr11:75566724 [GRCh38]
Chr11:75277769 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.547G>A (p.Gly183Ser) single nucleotide variant not provided [RCV001926696] Chr11:75566896 [GRCh38]
Chr11:75277941 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.100G>A (p.Glu34Lys) single nucleotide variant not provided [RCV002007857] Chr11:75566449 [GRCh38]
Chr11:75277494 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh37/hg19 11q13.4-13.5(chr11:74839014-75366449) copy number gain not specified [RCV002052937] Chr11:74839014..75366449 [GRCh37]
Chr11:11q13.4-13.5
uncertain significance
NM_001235.5(SERPINH1):c.1201C>G (p.Leu401Val) single nucleotide variant not provided [RCV001969239] Chr11:75572027 [GRCh38]
Chr11:75283072 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.46G>T (p.Ala16Ser) single nucleotide variant not provided [RCV001877395] Chr11:75566395 [GRCh38]
Chr11:75277440 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1236C>G (p.Asp412Glu) single nucleotide variant not provided [RCV001943091] Chr11:75572062 [GRCh38]
Chr11:75283107 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.78C>T (p.Ala26=) single nucleotide variant not provided [RCV001963504] Chr11:75566427 [GRCh38]
Chr11:75277472 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.292_306del (p.Ser98_Leu102del) deletion not provided [RCV002038385] Chr11:75566637..75566651 [GRCh38]
Chr11:75277682..75277696 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.712C>T (p.His238Tyr) single nucleotide variant not provided [RCV001925757] Chr11:75568820 [GRCh38]
Chr11:75279865 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.788A>G (p.Lys263Arg) single nucleotide variant not provided [RCV001923525] Chr11:75569005 [GRCh38]
Chr11:75280050 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.739G>A (p.Asp247Asn) single nucleotide variant not provided [RCV001888394] Chr11:75568956 [GRCh38]
Chr11:75280001 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1166T>C (p.Ile389Thr) single nucleotide variant not provided [RCV002048030] Chr11:75571992 [GRCh38]
Chr11:75283037 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.631G>A (p.Asp211Asn) single nucleotide variant not provided [RCV001977551] Chr11:75568739 [GRCh38]
Chr11:75279784 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1177C>T (p.Arg393Trp) single nucleotide variant Inborn genetic diseases [RCV004656827]|not provided [RCV002020070] Chr11:75572003 [GRCh38]
Chr11:75283048 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.455A>G (p.Gln152Arg) single nucleotide variant not provided [RCV002018465] Chr11:75566804 [GRCh38]
Chr11:75277849 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.996G>C (p.Lys332Asn) single nucleotide variant not provided [RCV001989160] Chr11:75571822 [GRCh38]
Chr11:75282867 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1114G>A (p.Gly372Arg) single nucleotide variant not provided [RCV001906667] Chr11:75571940 [GRCh38]
Chr11:75282985 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1066G>A (p.Ala356Thr) single nucleotide variant not provided [RCV001936393] Chr11:75571892 [GRCh38]
Chr11:75282937 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.102G>A (p.Glu34=) single nucleotide variant not provided [RCV002105461] Chr11:75566451 [GRCh38]
Chr11:75277496 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1191C>T (p.Ser397=) single nucleotide variant not provided [RCV002106276] Chr11:75572017 [GRCh38]
Chr11:75283062 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.840C>T (p.Arg280=) single nucleotide variant not provided [RCV002085139] Chr11:75569057 [GRCh38]
Chr11:75280102 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.622+7C>T single nucleotide variant not provided [RCV002190748] Chr11:75566978 [GRCh38]
Chr11:75278023 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.393C>T (p.Gly131=) single nucleotide variant not provided [RCV002168556] Chr11:75566742 [GRCh38]
Chr11:75277787 [GRCh37]
Chr11:11q13.5
likely benign|conflicting interpretations of pathogenicity
NM_001235.5(SERPINH1):c.366G>C (p.Thr122=) single nucleotide variant not provided [RCV002125262] Chr11:75566715 [GRCh38]
Chr11:75277760 [GRCh37]
Chr11:11q13.5
benign
NM_001235.5(SERPINH1):c.246G>A (p.Ser82=) single nucleotide variant not provided [RCV002187369] Chr11:75566595 [GRCh38]
Chr11:75277640 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.722-14C>T single nucleotide variant not provided [RCV002196657] Chr11:75568925 [GRCh38]
Chr11:75279970 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.516C>T (p.Ser172=) single nucleotide variant not provided [RCV002076574] Chr11:75566865 [GRCh38]
Chr11:75277910 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.690T>C (p.Tyr230=) single nucleotide variant not provided [RCV002174983] Chr11:75568798 [GRCh38]
Chr11:75279843 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.741C>T (p.Asp247=) single nucleotide variant not provided [RCV002095949] Chr11:75568958 [GRCh38]
Chr11:75280003 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1212G>T (p.Gly404=) single nucleotide variant not provided [RCV002194229] Chr11:75572038 [GRCh38]
Chr11:75283083 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.722-12C>T single nucleotide variant not provided [RCV002153110] Chr11:75568927 [GRCh38]
Chr11:75279972 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.804C>T (p.Ile268=) single nucleotide variant not provided [RCV002131441] Chr11:75569021 [GRCh38]
Chr11:75280066 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.167A>G (p.Gln56Arg) single nucleotide variant not provided [RCV002160062] Chr11:75566516 [GRCh38]
Chr11:75277561 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1149C>T (p.Tyr383=) single nucleotide variant not provided [RCV002164002] Chr11:75571975 [GRCh38]
Chr11:75283020 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.622+8G>T single nucleotide variant not provided [RCV002217617] Chr11:75566979 [GRCh38]
Chr11:75278024 [GRCh37]
Chr11:11q13.5
likely benign
NC_000011.9:g.(?_71146421)_(75283128_?)dup duplication 3-methylglutaconic aciduria, type VIIB [RCV003122786] Chr11:71146421..75283128 [GRCh37]
Chr11:11q13.4-13.5
uncertain significance
NM_001235.5(SERPINH1):c.843T>C (p.Leu281=) single nucleotide variant Osteogenesis imperfecta [RCV002277845]|not provided [RCV003698898] Chr11:75569060 [GRCh38]
Chr11:75280105 [GRCh37]
Chr11:11q13.5
likely benign|uncertain significance
GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3 copy number gain MISSED ABORTION [RCV002282973] Chr11:32799481..134938470 [GRCh37]
Chr11:11p13-q25
pathogenic
NM_001235.5(SERPINH1):c.227C>G (p.Ser76Trp) single nucleotide variant not provided [RCV002297618] Chr11:75566576 [GRCh38]
Chr11:75277621 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.779T>C (p.Leu260Pro) single nucleotide variant not provided [RCV002302924] Chr11:75568996 [GRCh38]
Chr11:75280041 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.969G>T (p.Gly323=) single nucleotide variant not provided [RCV002726721] Chr11:75571795 [GRCh38]
Chr11:75282840 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.439G>A (p.Val147Met) single nucleotide variant not provided [RCV002775426] Chr11:75566788 [GRCh38]
Chr11:75277833 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.522C>A (p.Asn174Lys) single nucleotide variant not provided [RCV002994289] Chr11:75566871 [GRCh38]
Chr11:75277916 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.95C>T (p.Thr32Ile) single nucleotide variant not provided [RCV003021900] Chr11:75566444 [GRCh38]
Chr11:75277489 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.955-19C>T single nucleotide variant not provided [RCV002569586] Chr11:75571762 [GRCh38]
Chr11:75282807 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1207A>G (p.Ile403Val) single nucleotide variant not provided [RCV002820345] Chr11:75572033 [GRCh38]
Chr11:75283078 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.55G>A (p.Ala19Thr) single nucleotide variant not provided [RCV002658663] Chr11:75566404 [GRCh38]
Chr11:75277449 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.346C>T (p.Arg116Cys) single nucleotide variant not provided [RCV002781267] Chr11:75566695 [GRCh38]
Chr11:75277740 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.133G>A (p.Glu45Lys) single nucleotide variant not provided [RCV002622158] Chr11:75566482 [GRCh38]
Chr11:75277527 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1227T>C (p.Pro409=) single nucleotide variant not provided [RCV002659060] Chr11:75572053 [GRCh38]
Chr11:75283098 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1249G>A (p.Glu417Lys) single nucleotide variant Inborn genetic diseases [RCV003274133]|not provided [RCV002999910] Chr11:75572075 [GRCh38]
Chr11:75283120 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.955-7C>T single nucleotide variant SERPINH1-related disorder [RCV003926706]|not provided [RCV003100416] Chr11:75571774 [GRCh38]
Chr11:75282819 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.104A>T (p.Lys35Met) single nucleotide variant not provided [RCV002570064] Chr11:75566453 [GRCh38]
Chr11:75277498 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.936G>A (p.Glu312=) single nucleotide variant not provided [RCV002745643] Chr11:75569153 [GRCh38]
Chr11:75280198 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.357C>T (p.Ser119=) single nucleotide variant not provided [RCV002640682] Chr11:75566706 [GRCh38]
Chr11:75277751 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.967G>A (p.Gly323Arg) single nucleotide variant not provided [RCV002643628] Chr11:75571793 [GRCh38]
Chr11:75282838 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.169G>A (p.Ala57Thr) single nucleotide variant not provided [RCV003023471] Chr11:75566518 [GRCh38]
Chr11:75277563 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.747G>C (p.Glu249Asp) single nucleotide variant not provided [RCV003005700] Chr11:75568964 [GRCh38]
Chr11:75280009 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1015C>T (p.Arg339Cys) single nucleotide variant not provided [RCV002574320] Chr11:75571841 [GRCh38]
Chr11:75282886 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1111T>A (p.Tyr371Asn) single nucleotide variant not provided [RCV002890494] Chr11:75571937 [GRCh38]
Chr11:75282982 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.819T>C (p.His273=) single nucleotide variant not provided [RCV002982742] Chr11:75569036 [GRCh38]
Chr11:75280081 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.623-3C>T single nucleotide variant not provided [RCV002740604] Chr11:75568728 [GRCh38]
Chr11:75279773 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.534G>A (p.Ala178=) single nucleotide variant not provided [RCV003022458] Chr11:75566883 [GRCh38]
Chr11:75277928 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.308G>A (p.Arg103His) single nucleotide variant not provided [RCV002573015] Chr11:75566657 [GRCh38]
Chr11:75277702 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.771G>C (p.Glu257Asp) single nucleotide variant not provided [RCV002596776] Chr11:75568988 [GRCh38]
Chr11:75280033 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1034A>C (p.Asp345Ala) single nucleotide variant Inborn genetic diseases [RCV002813369] Chr11:75571860 [GRCh38]
Chr11:75282905 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.499C>A (p.Arg167Ser) single nucleotide variant not provided [RCV002630945] Chr11:75566848 [GRCh38]
Chr11:75277893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.30C>T (p.Phe10=) single nucleotide variant not provided [RCV002857391] Chr11:75566379 [GRCh38]
Chr11:75277424 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1176G>A (p.Val392=) single nucleotide variant not provided [RCV002770297] Chr11:75572002 [GRCh38]
Chr11:75283047 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.707T>C (p.Met236Thr) single nucleotide variant not provided [RCV003062042] Chr11:75568815 [GRCh38]
Chr11:75279860 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.367G>T (p.Ala123Ser) single nucleotide variant not provided [RCV003060172] Chr11:75566716 [GRCh38]
Chr11:75277761 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.465_479dup (p.Ser159_Lys160insAsnCysGluHisSer) duplication not provided [RCV002597581] Chr11:75566810..75566811 [GRCh38]
Chr11:75277855..75277856 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1018A>G (p.Met340Val) single nucleotide variant Inborn genetic diseases [RCV003167564]|not provided [RCV002646523] Chr11:75571844 [GRCh38]
Chr11:75282889 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.722-15C>T single nucleotide variant not provided [RCV002676966] Chr11:75568924 [GRCh38]
Chr11:75279969 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.683G>A (p.Arg228Gln) single nucleotide variant Inborn genetic diseases [RCV002678634] Chr11:75568791 [GRCh38]
Chr11:75279836 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.692C>T (p.Thr231Ile) single nucleotide variant not provided [RCV003051681] Chr11:75568800 [GRCh38]
Chr11:75279845 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.955-10del deletion not provided [RCV002611009] Chr11:75571771 [GRCh38]
Chr11:75282816 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.227C>T (p.Ser76Leu) single nucleotide variant not provided [RCV002943707] Chr11:75566576 [GRCh38]
Chr11:75277621 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.272C>T (p.Ser91Leu) single nucleotide variant not provided [RCV002589014] Chr11:75566621 [GRCh38]
Chr11:75277666 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.87T>A (p.Ala29=) single nucleotide variant not provided [RCV003073197] Chr11:75566436 [GRCh38]
Chr11:75277481 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1118G>A (p.Arg373His) single nucleotide variant not provided [RCV003149543] Chr11:75571944 [GRCh38]
Chr11:75282989 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1189A>C (p.Ser397Arg) single nucleotide variant Inborn genetic diseases [RCV003193830] Chr11:75572015 [GRCh38]
Chr11:75283060 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1020G>A (p.Met340Ile) single nucleotide variant Osteogenesis imperfecta type 10 [RCV003136566] Chr11:75571846 [GRCh38]
Chr11:75282891 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.119C>T (p.Ala40Val) single nucleotide variant Osteogenesis imperfecta type 10 [RCV003136567] Chr11:75566468 [GRCh38]
Chr11:75277513 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.424T>C (p.Phe142Leu) single nucleotide variant Inborn genetic diseases [RCV003208691] Chr11:75566773 [GRCh38]
Chr11:75277818 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1244G>A (p.Arg415Gln) single nucleotide variant Osteogenesis imperfecta type 10 [RCV003340985] Chr11:75572070 [GRCh38]
Chr11:75283115 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1214G>C (p.Arg405Pro) single nucleotide variant Inborn genetic diseases [RCV003355336] Chr11:75572040 [GRCh38]
Chr11:75283085 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.438C>T (p.Phe146=) single nucleotide variant not provided [RCV003873679] Chr11:75566787 [GRCh38]
Chr11:75277832 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.774G>A (p.Met258Ile) single nucleotide variant not specified [RCV003480009] Chr11:75568991 [GRCh38]
Chr11:75280036 [GRCh37]
Chr11:11q13.5
uncertain significance
GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3 copy number gain not provided [RCV003484842] Chr11:59923608..76272324 [GRCh37]
Chr11:11q12.2-13.5
pathogenic
NM_001235.5(SERPINH1):c.1243C>T (p.Arg415Ter) single nucleotide variant not specified [RCV003479906] Chr11:75572069 [GRCh38]
Chr11:75283114 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.1185C>T (p.Thr395=) single nucleotide variant not provided [RCV003695363] Chr11:75572011 [GRCh38]
Chr11:75283056 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.622+12G>A single nucleotide variant not provided [RCV003877823] Chr11:75566983 [GRCh38]
Chr11:75278028 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.732C>T (p.Asn244=) single nucleotide variant not provided [RCV003855770] Chr11:75568949 [GRCh38]
Chr11:75279994 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.240C>T (p.Leu80=) single nucleotide variant SERPINH1-related disorder [RCV003939224]|not provided [RCV003835687] Chr11:75566589 [GRCh38]
Chr11:75277634 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.623-20G>A single nucleotide variant not provided [RCV003838290] Chr11:75568711 [GRCh38]
Chr11:75279756 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.974del (p.Gly325fs) deletion not provided [RCV003700604] Chr11:75571798 [GRCh38]
Chr11:75282843 [GRCh37]
Chr11:11q13.5
pathogenic
NM_001235.5(SERPINH1):c.444C>T (p.Arg148=) single nucleotide variant not provided [RCV003671726] Chr11:75566793 [GRCh38]
Chr11:75277838 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.722-7C>T single nucleotide variant not provided [RCV003707505] Chr11:75568932 [GRCh38]
Chr11:75279977 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.543C>G (p.Thr181=) single nucleotide variant not provided [RCV003542226] Chr11:75566892 [GRCh38]
Chr11:75277937 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.477C>T (p.Ser159=) single nucleotide variant not provided [RCV003727502] Chr11:75566826 [GRCh38]
Chr11:75277871 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1173A>G (p.Leu391=) single nucleotide variant not provided [RCV003551024] Chr11:75571999 [GRCh38]
Chr11:75283044 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.954+15_954+18dup duplication not provided [RCV003736506] Chr11:75569183..75569184 [GRCh38]
Chr11:75280228..75280229 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.504C>T (p.Ser168=) single nucleotide variant not provided [RCV003820189] Chr11:75566853 [GRCh38]
Chr11:75277898 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1110C>A (p.Ile370=) single nucleotide variant not provided [RCV003847990] Chr11:75571936 [GRCh38]
Chr11:75282981 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.522C>T (p.Asn174=) single nucleotide variant not provided [RCV003728839] Chr11:75566871 [GRCh38]
Chr11:75277916 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.108G>A (p.Leu36=) single nucleotide variant not provided [RCV003708422] Chr11:75566457 [GRCh38]
Chr11:75277502 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.184C>T (p.Gln62Ter) single nucleotide variant not provided [RCV003564309] Chr11:75566533 [GRCh38]
Chr11:75277578 [GRCh37]
Chr11:11q13.5
pathogenic
NM_001235.5(SERPINH1):c.889A>G (p.Met297Val) single nucleotide variant not provided [RCV003679648] Chr11:75569106 [GRCh38]
Chr11:75280151 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.738C>T (p.Tyr246=) single nucleotide variant SERPINH1-related disorder [RCV003894696] Chr11:75568955 [GRCh38]
Chr11:75280000 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.1049G>C (p.Ser350Thr) single nucleotide variant Inborn genetic diseases [RCV004455382] Chr11:75571875 [GRCh38]
Chr11:75282920 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.221T>A (p.Val74Glu) single nucleotide variant Inborn genetic diseases [RCV004455383] Chr11:75566570 [GRCh38]
Chr11:75277615 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.716G>A (p.Arg239Gln) single nucleotide variant Inborn genetic diseases [RCV004455385] Chr11:75568824 [GRCh38]
Chr11:75279869 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.778C>G (p.Leu260Val) single nucleotide variant Inborn genetic diseases [RCV004455386] Chr11:75568995 [GRCh38]
Chr11:75280040 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.443G>A (p.Arg148His) single nucleotide variant Inborn genetic diseases [RCV004455384] Chr11:75566792 [GRCh38]
Chr11:75277837 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.205G>C (p.Val69Leu) single nucleotide variant Inborn genetic diseases [RCV004667151] Chr11:75566554 [GRCh38]
Chr11:75277599 [GRCh37]
Chr11:11q13.5
likely benign
NM_001235.5(SERPINH1):c.319G>A (p.Val107Met) single nucleotide variant Inborn genetic diseases [RCV004666021] Chr11:75566668 [GRCh38]
Chr11:75277713 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.697G>T (p.Gly233Cys) single nucleotide variant not provided [RCV004585942] Chr11:75568805 [GRCh38]
Chr11:75279850 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.498_499delinsAT (p.Arg167Cys) indel not provided [RCV004585965] Chr11:75566847..75566848 [GRCh38]
Chr11:75277892..75277893 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.469G>C (p.Glu157Gln) single nucleotide variant Inborn genetic diseases [RCV004666023] Chr11:75566818 [GRCh38]
Chr11:75277863 [GRCh37]
Chr11:11q13.5
uncertain significance
NM_001235.5(SERPINH1):c.784C>T (p.His262Tyr) single nucleotide variant Inborn genetic diseases [RCV004666024] Chr11:75569001 [GRCh38]
Chr11:75280046 [GRCh37]
Chr11:11q13.5
uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:4673
Count of miRNA genes:926
Interacting mature miRNAs:1130
Transcripts:ENST00000358171, ENST00000524558, ENST00000525492, ENST00000525611, ENST00000525876, ENST00000526242, ENST00000526397, ENST00000526638, ENST00000528760, ENST00000528990, ENST00000529643, ENST00000530284, ENST00000532356, ENST00000533449, ENST00000533603
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
597214746GWAS1310820_Hbody height QTL GWAS1310820 (human)3e-68body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
407081536GWAS730512_Hbody height QTL GWAS730512 (human)2e-23body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597592347GWAS1649207_Hbody height QTL GWAS1649207 (human)1e-46body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597195678GWAS1291752_Hbody height QTL GWAS1291752 (human)1e-300body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597578515GWAS1635375_Hbody height QTL GWAS1635375 (human)3e-44body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597598606GWAS1655466_Hbody height QTL GWAS1655466 (human)7e-99body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597608846GWAS1665706_Hheart disease QTL GWAS1665706 (human)6e-15heart disease117557056475570565Human
597592719GWAS1649579_Hbody height QTL GWAS1649579 (human)2e-216body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597598730GWAS1655590_Hbody height QTL GWAS1655590 (human)1e-16body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597595274GWAS1652134_Hcoronary artery disease QTL GWAS1652134 (human)8e-16coronary artery disease117556513375565134Human
597303680GWAS1399754_Hbody height QTL GWAS1399754 (human)3e-94body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
406919131GWAS568107_Hbody height QTL GWAS568107 (human)1e-29body height (VT:0001253)body height (CMO:0000106)117556824575568246Human
597103370GWAS1199444_Hmyocardial infarction QTL GWAS1199444 (human)0.0000001myocardial infarction117556513375565134Human
597592705GWAS1649565_Hbody height QTL GWAS1649565 (human)7e-16body height (VT:0001253)body height (CMO:0000106)117557056475570565Human
596955061GWAS1074580_HBMI-adjusted waist circumference QTL GWAS1074580 (human)0.000002BMI-adjusted waist circumference117556513375565134Human
597592124GWAS1648984_Hcoronary artery disease QTL GWAS1648984 (human)3e-21coronary artery disease117556513375565134Human
597122738GWAS1218812_Hbody height QTL GWAS1218812 (human)0.000002body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
597592759GWAS1649619_Hbody height QTL GWAS1649619 (human)6e-45body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597263413GWAS1359487_Hbody height QTL GWAS1359487 (human)4e-25body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597293620GWAS1389694_Hbody height QTL GWAS1389694 (human)3e-73body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
407044588GWAS693564_Hbody height QTL GWAS693564 (human)2e-09body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597582122GWAS1638982_Hbody height QTL GWAS1638982 (human)3e-75body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597592618GWAS1649478_Hbody height QTL GWAS1649478 (human)8e-17body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597064736GWAS1160810_HBMI-adjusted waist circumference, physical activity measurement QTL GWAS1160810 (human)0.000002body size trait (VT:0100005)voluntary body movement measurement (CMO:0000954)117556513375565134Human
597123233GWAS1219307_Hbody height QTL GWAS1219307 (human)3e-34body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
597297709GWAS1393783_HBMI-adjusted hip circumference QTL GWAS1393783 (human)3e-14BMI-adjusted hip circumferencehip circumference (CMO:0000014)117556824575568246Human
597270944GWAS1367018_Hbody height QTL GWAS1367018 (human)1e-16body height (VT:0001253)body height (CMO:0000106)117556824575568246Human
597349793GWAS1445867_Hmyocardial infarction QTL GWAS1445867 (human)0.0000002myocardial infarction117556513375565134Human
597618720GWAS1675580_Hheart disease QTL GWAS1675580 (human)9e-13heart disease117557056475570565Human
597124009GWAS1220083_Hbody height QTL GWAS1220083 (human)4e-15body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
406957313GWAS606289_Hbody height QTL GWAS606289 (human)2e-08body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
596958805GWAS1078324_Hbody height QTL GWAS1078324 (human)1e-300body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597218137GWAS1314211_Hbody height QTL GWAS1314211 (human)9e-101body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597015894GWAS1111968_Hcoronary artery disease QTL GWAS1111968 (human)2e-10coronary artery disease117556310575563106Human
597065813GWAS1161887_HBMI-adjusted waist circumference QTL GWAS1161887 (human)6e-09body size trait (VT:0100005)117556513375565134Human
597592150GWAS1649010_Hbody height QTL GWAS1649010 (human)7e-195body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597196496GWAS1292570_Hbody height QTL GWAS1292570 (human)4e-25body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
407049865GWAS698841_Hbody height QTL GWAS698841 (human)1e-16body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597105244GWAS1201318_Hbody height QTL GWAS1201318 (human)7e-15body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
596975833GWAS1095352_Hbody height QTL GWAS1095352 (human)3e-94body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597290580GWAS1386654_Hsize QTL GWAS1386654 (human)1e-22size117556513375565134Human
597105242GWAS1201316_Hbody height QTL GWAS1201316 (human)2e-15body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597499475GWAS1595549_HBMI-adjusted hip circumference QTL GWAS1595549 (human)1e-08BMI-adjusted hip circumferencehip circumference (CMO:0000014)117556364275563643Human
597592785GWAS1649645_Hbody height QTL GWAS1649645 (human)3e-185body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
1357380BW64_HBody weight QTL 64 (human)2.2Body weightpercent fat after exercise training116097893786978937Human
597357898GWAS1453972_Hbody height QTL GWAS1453972 (human)2e-19body height (VT:0001253)body height (CMO:0000106)117556762175567622Human
597045573GWAS1141647_Hbody height QTL GWAS1141647 (human)2e-106body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
596949575GWAS1069094_HBMI-adjusted hip circumference QTL GWAS1069094 (human)1e-08body size trait (VT:0100005)voluntary body movement measurement (CMO:0000954)117556513375565134Human
597304908GWAS1400982_Hcoronary artery disease QTL GWAS1400982 (human)2e-14coronary artery disease117556513375565134Human
406985748GWAS634724_HBMI-adjusted waist circumference QTL GWAS634724 (human)6e-17body size trait (VT:0100005)117556658375566584Human
597065422GWAS1161496_HBMI-adjusted waist circumference QTL GWAS1161496 (human)3e-08body size trait (VT:0100005)117556513375565134Human
597065421GWAS1161495_HBMI-adjusted waist circumference QTL GWAS1161495 (human)0.000001body size trait (VT:0100005)117556513375565134Human
597323591GWAS1419665_Hbody height QTL GWAS1419665 (human)2e-08body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597591488GWAS1648348_Hcoronary atherosclerosis QTL GWAS1648348 (human)7e-20coronary atherosclerosis117556513375565134Human
597582974GWAS1639834_Hbody height QTL GWAS1639834 (human)6e-70body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597073780GWAS1169854_Hcoronary artery disease QTL GWAS1169854 (human)5e-11coronary artery disease117556513375565134Human
597257979GWAS1354053_Hglucose metabolism measurement, age-related hearing impairment QTL GWAS1354053 (human)0.00001glucose metabolism measurement, age-related hearing impairment117556658375566584Human
597083636GWAS1179710_Hcoronary artery disease QTL GWAS1179710 (human)3e-12coronary artery disease117557260875572609Human
596955383GWAS1074902_Hsize QTL GWAS1074902 (human)1e-22size117556513375565134Human
597618682GWAS1675542_Hcoronary atherosclerosis QTL GWAS1675542 (human)1e-13coronary atherosclerosis117557056475570565Human
597130354GWAS1226428_Hbody height QTL GWAS1226428 (human)3e-58body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597598448GWAS1655308_Hbody height QTL GWAS1655308 (human)2e-49body height (VT:0001253)body height (CMO:0000106)117556443475564435Human
597620971GWAS1677831_Hcoronary artery disease QTL GWAS1677831 (human)4e-14coronary artery disease117556443475564435Human
597585766GWAS1642626_Hbody height QTL GWAS1642626 (human)2e-70body height (VT:0001253)body height (CMO:0000106)117556513375565134Human
597224034GWAS1320108_HBMI-adjusted waist circumference QTL GWAS1320108 (human)2e-15body size trait (VT:0100005)117556443475564435Human
597192163GWAS1288237_Hsexual dimorphism measurement QTL GWAS1288237 (human)3e-09sexual dimorphism measurement117556513375565134Human
597598434GWAS1655294_Hbody height QTL GWAS1655294 (human)7e-19body height (VT:0001253)body height (CMO:0000106)117557056475570565Human
407060415GWAS709391_Hbody height QTL GWAS709391 (human)4e-13body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
597123179GWAS1219253_Hbody height QTL GWAS1219253 (human)2e-10body height (VT:0001253)body height (CMO:0000106)117557100775571008Human
597305063GWAS1401137_Hcoronary artery disease QTL GWAS1401137 (human)2e-14coronary artery disease117556658375566584Human

Markers in Region
A002P11  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371175,283,549 - 75,283,741UniSTSGRCh37
GRCh37934,320,074 - 34,320,247UniSTSGRCh37
Build 36934,310,074 - 34,310,247RGDNCBI36
Celera934,251,600 - 34,251,773RGD
Celera1172,591,324 - 72,591,516UniSTS
Cytogenetic Map11q13.5UniSTS
Cytogenetic Map9p13.3UniSTS
HuRef1171,580,624 - 71,580,816UniSTS
HuRef934,275,317 - 34,275,490UniSTS
GeneMap99-GB4 RH Map11272.83UniSTS
RH11786  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371175,283,530 - 75,283,664UniSTSGRCh37
Build 361174,961,178 - 74,961,312RGDNCBI36
Celera1172,591,305 - 72,591,439RGD
Cytogenetic Map11q13.5UniSTS
HuRef1171,580,605 - 71,580,739UniSTS
GeneMap99-GB4 RH Map11273.87UniSTS
D11S4351  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371175,283,524 - 75,283,664UniSTSGRCh37
Build 361174,961,172 - 74,961,312RGDNCBI36
Celera1172,591,299 - 72,591,439RGD
Cytogenetic Map9p13.3UniSTS
Cytogenetic Map11q13.5UniSTS
HuRef1171,580,599 - 71,580,739UniSTS
HuRef934,275,293 - 34,275,432UniSTS
Stanford-G3 RH Map113302.0UniSTS
NCBI RH Map11631.8UniSTS
GeneMap99-G3 RH Map113302.0UniSTS
STS-T11182  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371175,283,540 - 75,283,698UniSTSGRCh37
Build 361174,961,188 - 74,961,346RGDNCBI36
Celera1172,591,315 - 72,591,473RGD
Cytogenetic Map11q13.5UniSTS
HuRef1171,580,615 - 71,580,773UniSTS
GeneMap99-GB4 RH Map11273.87UniSTS
NCBI RH Map11631.3UniSTS


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 2249 4973 1726 2351 6 624 1928 465 2269 7287 6453 53 3734 1 852 1744 1617 175 1

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_012052 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001207014 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001235 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_011545327 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_024448756 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_047427800 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370353 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370354 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  XM_054370355 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB044778 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044779 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044780 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB044781 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AI926019 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK075504 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK094047 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK122936 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK130870 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK131503 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290124 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK297811 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK309905 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP001922 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AP002815 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY264853 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY744367 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC036298 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC070087 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BQ016136 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BT007094 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CB123399 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471076 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068267 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D83174 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  DC398178 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  JC011915 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X61598 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Ensembl Acc Id: ENST00000358171   ⟹   ENSP00000350894
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,253 - 75,572,783 (+)Ensembl
Ensembl Acc Id: ENST00000524558   ⟹   ENSP00000434412
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,370 - 75,572,782 (+)Ensembl
Ensembl Acc Id: ENST00000525492   ⟹   ENSP00000434482
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,253 - 75,566,918 (+)Ensembl
Ensembl Acc Id: ENST00000525611   ⟹   ENSP00000435452
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,864 - 75,568,960 (+)Ensembl
Ensembl Acc Id: ENST00000525876   ⟹   ENSP00000433532
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,567,782 - 75,572,782 (+)Ensembl
Ensembl Acc Id: ENST00000526242   ⟹   ENSP00000431384
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,137 - 75,566,681 (+)Ensembl
Ensembl Acc Id: ENST00000526397   ⟹   ENSP00000434964
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,243 - 75,568,966 (+)Ensembl
Ensembl Acc Id: ENST00000526638   ⟹   ENSP00000436306
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,571,914 - 75,572,783 (+)Ensembl
Ensembl Acc Id: ENST00000528760   ⟹   ENSP00000437108
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,563,422 - 75,566,959 (+)Ensembl
Ensembl Acc Id: ENST00000528990   ⟹   ENSP00000432007
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,827 - 75,566,844 (+)Ensembl
Ensembl Acc Id: ENST00000529643   ⟹   ENSP00000435936
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,253 - 75,566,849 (+)Ensembl
Ensembl Acc Id: ENST00000530284   ⟹   ENSP00000436305
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,253 - 75,569,430 (+)Ensembl
Ensembl Acc Id: ENST00000532356   ⟹   ENSP00000436040
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,346 - 75,569,104 (+)Ensembl
Ensembl Acc Id: ENST00000533449   ⟹   ENSP00000431827
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,809 - 75,571,940 (+)Ensembl
Ensembl Acc Id: ENST00000533603   ⟹   ENSP00000434657
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,056 - 75,572,783 (+)Ensembl
Ensembl Acc Id: ENST00000649490   ⟹   ENSP00000497544
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p14 Ensembl1175,562,217 - 75,572,542 (+)Ensembl
RefSeq Acc Id: NM_001207014   ⟹   NP_001193943
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,253 - 75,572,783 (+)NCBI
GRCh371175,273,101 - 75,283,849 (+)ENTREZGENE
HuRef1171,570,181 - 71,580,924 (+)ENTREZGENE
CHM1_11175,156,705 - 75,167,451 (+)NCBI
T2T-CHM13v2.01175,491,635 - 75,502,159 (+)NCBI
Sequence:
RefSeq Acc Id: NM_001235   ⟹   NP_001226
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,253 - 75,572,783 (+)NCBI
GRCh371175,273,101 - 75,283,849 (+)ENTREZGENE
Build 361174,950,818 - 74,961,494 (+)NCBI Archive
HuRef1171,570,181 - 71,580,924 (+)ENTREZGENE
CHM1_11175,156,705 - 75,167,451 (+)NCBI
T2T-CHM13v2.01175,491,635 - 75,502,159 (+)NCBI
Sequence:
RefSeq Acc Id: XM_011545327   ⟹   XP_011543629
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,253 - 75,572,783 (+)NCBI
Sequence:
RefSeq Acc Id: XM_024448756   ⟹   XP_024304524
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,473 - 75,572,783 (+)NCBI
Sequence:
RefSeq Acc Id: XM_047427800   ⟹   XP_047283756
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,473 - 75,572,783 (+)NCBI
RefSeq Acc Id: XM_054370353   ⟹   XP_054226328
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,491,837 - 75,502,159 (+)NCBI
RefSeq Acc Id: XM_054370354   ⟹   XP_054226329
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,491,837 - 75,502,159 (+)NCBI
RefSeq Acc Id: XM_054370355   ⟹   XP_054226330
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
T2T-CHM13v2.01175,491,520 - 75,502,159 (+)NCBI
Protein Sequences
Protein RefSeqs NP_001193943 (Get FASTA)   NCBI Sequence Viewer  
  NP_001226 (Get FASTA)   NCBI Sequence Viewer  
  XP_011543629 (Get FASTA)   NCBI Sequence Viewer  
  XP_024304524 (Get FASTA)   NCBI Sequence Viewer  
  XP_047283756 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226328 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226329 (Get FASTA)   NCBI Sequence Viewer  
  XP_054226330 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAH14623 (Get FASTA)   NCBI Sequence Viewer  
  AAH36298 (Get FASTA)   NCBI Sequence Viewer  
  AAH70087 (Get FASTA)   NCBI Sequence Viewer  
  AAP35758 (Get FASTA)   NCBI Sequence Viewer  
  AAP93914 (Get FASTA)   NCBI Sequence Viewer  
  AAU95378 (Get FASTA)   NCBI Sequence Viewer  
  BAA11829 (Get FASTA)   NCBI Sequence Viewer  
  BAA96788 (Get FASTA)   NCBI Sequence Viewer  
  BAA96789 (Get FASTA)   NCBI Sequence Viewer  
  BAA96790 (Get FASTA)   NCBI Sequence Viewer  
  BAA96791 (Get FASTA)   NCBI Sequence Viewer  
  BAF82813 (Get FASTA)   NCBI Sequence Viewer  
  BAG53805 (Get FASTA)   NCBI Sequence Viewer  
  BAG60149 (Get FASTA)   NCBI Sequence Viewer  
  CAA43795 (Get FASTA)   NCBI Sequence Viewer  
  CDL93515 (Get FASTA)   NCBI Sequence Viewer  
  EAW74974 (Get FASTA)   NCBI Sequence Viewer  
  EAW74975 (Get FASTA)   NCBI Sequence Viewer  
  EAW74976 (Get FASTA)   NCBI Sequence Viewer  
  EAW74977 (Get FASTA)   NCBI Sequence Viewer  
  EAW74978 (Get FASTA)   NCBI Sequence Viewer  
  EAW74979 (Get FASTA)   NCBI Sequence Viewer  
Ensembl Protein ENSP00000350894
  ENSP00000350894.4
  ENSP00000431384.1
  ENSP00000431827
  ENSP00000431827.2
  ENSP00000432007.2
  ENSP00000433532.1
  ENSP00000434412
  ENSP00000434412.1
  ENSP00000434482.1
  ENSP00000434657
  ENSP00000434657.1
  ENSP00000434964.1
  ENSP00000435452.1
  ENSP00000435936.1
  ENSP00000436040.1
  ENSP00000436305.1
  ENSP00000436306.1
  ENSP00000437108.1
  ENSP00000497544.1
GenBank Protein P50454 (Get FASTA)   NCBI Sequence Viewer  
RefSeq Acc Id: NP_001193943   ⟸   NM_001207014
- Peptide Label: precursor
- UniProtKB: P50454 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   Q9NP88 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001226   ⟸   NM_001235
- Peptide Label: precursor
- UniProtKB: P50454 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   Q9NP88 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_011543629   ⟸   XM_011545327
- Peptide Label: isoform X1
- UniProtKB: P50454 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   Q9NP88 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: XP_024304524   ⟸   XM_024448756
- Peptide Label: isoform X1
- UniProtKB: Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P50454 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   Q9NP88 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
- Sequence:
Ensembl Acc Id: ENSP00000497544   ⟸   ENST00000649490
Ensembl Acc Id: ENSP00000436305   ⟸   ENST00000530284
Ensembl Acc Id: ENSP00000436040   ⟸   ENST00000532356
Ensembl Acc Id: ENSP00000434657   ⟸   ENST00000533603
Ensembl Acc Id: ENSP00000431827   ⟸   ENST00000533449
Ensembl Acc Id: ENSP00000434412   ⟸   ENST00000524558
Ensembl Acc Id: ENSP00000433532   ⟸   ENST00000525876
Ensembl Acc Id: ENSP00000435452   ⟸   ENST00000525611
Ensembl Acc Id: ENSP00000434482   ⟸   ENST00000525492
Ensembl Acc Id: ENSP00000431384   ⟸   ENST00000526242
Ensembl Acc Id: ENSP00000436306   ⟸   ENST00000526638
Ensembl Acc Id: ENSP00000434964   ⟸   ENST00000526397
Ensembl Acc Id: ENSP00000437108   ⟸   ENST00000528760
Ensembl Acc Id: ENSP00000432007   ⟸   ENST00000528990
Ensembl Acc Id: ENSP00000435936   ⟸   ENST00000529643
Ensembl Acc Id: ENSP00000350894   ⟸   ENST00000358171
RefSeq Acc Id: XP_047283756   ⟸   XM_047427800
- Peptide Label: isoform X1
- UniProtKB: Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P50454 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   Q9NP88 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226330   ⟸   XM_054370355
- Peptide Label: isoform X1
- UniProtKB: Q9NP88 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P50454 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226328   ⟸   XM_054370353
- Peptide Label: isoform X1
- UniProtKB: Q9NP88 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P50454 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
RefSeq Acc Id: XP_054226329   ⟸   XM_054370354
- Peptide Label: isoform X1
- UniProtKB: Q9NP88 (UniProtKB/Swiss-Prot),   Q8IY96 (UniProtKB/Swiss-Prot),   Q6NSJ6 (UniProtKB/Swiss-Prot),   Q5XPB4 (UniProtKB/Swiss-Prot),   P50454 (UniProtKB/Swiss-Prot),   P29043 (UniProtKB/Swiss-Prot),   B3KVJ3 (UniProtKB/Swiss-Prot),   A8K259 (UniProtKB/TrEMBL)
Protein Domains
SERPIN

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P50454-F1-model_v2 AlphaFold P50454 1-418 view protein structure

Promoters
RGD ID:6789350
Promoter ID:HG_KWN:13747
Type:CpG-Island
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:CD4+TCell,   CD4+TCell_12Hour,   HeLa_S3,   K562,   Lymphoblastoid,   NB4
Transcripts:NM_001235,   UC001OWS.1,   UC009YUF.1,   UC009YUG.1
Position:
Human AssemblyChrPosition (strand)Source
Build 361174,950,761 - 74,951,512 (+)MPROMDB
RGD ID:6850788
Promoter ID:EP73188
Type:multiple initiation site
Name:HS_SERPINH1
Description:Serine (or cysteine) proteinase inhibitor, clade H (heat shockprotein 47), member 1.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Experiment Methods:NEDO full length human cDNA sequencing project.; Oligo-capping
Position:
Human AssemblyChrPosition (strand)Source
Build 361174,950,946 - 74,951,006EPD
RGD ID:6814959
Promoter ID:HG_MRA:2941
Type:Non-CpG
SO ACC ID:SO:0000170
Source:MPROMDB
Tissues & Cell Lines:Lymphoblastoid
Transcripts:AK131503
Position:
Human AssemblyChrPosition (strand)Source
Build 361174,952,701 - 74,953,201 (+)MPROMDB
RGD ID:7221577
Promoter ID:EPDNEW_H16534
Type:initiation region
Name:SERPINH1_2
Description:serpin family H member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16535  EPDNEW_H16536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,126 - 75,562,186EPDNEW
RGD ID:7221579
Promoter ID:EPDNEW_H16535
Type:initiation region
Name:SERPINH1_1
Description:serpin family H member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16534  EPDNEW_H16536  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,253 - 75,562,313EPDNEW
RGD ID:7221581
Promoter ID:EPDNEW_H16536
Type:initiation region
Name:SERPINH1_3
Description:serpin family H member 1
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H16534  EPDNEW_H16535  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381175,562,830 - 75,562,890EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:1546 AgrOrtholog
COSMIC SERPINH1 COSMIC
Ensembl Genes ENSG00000149257 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Transcript ENST00000358171 ENTREZGENE
  ENST00000358171.8 UniProtKB/Swiss-Prot
  ENST00000524558 ENTREZGENE
  ENST00000524558.5 UniProtKB/Swiss-Prot
  ENST00000525492.5 UniProtKB/TrEMBL
  ENST00000525611.5 UniProtKB/TrEMBL
  ENST00000525876.1 UniProtKB/TrEMBL
  ENST00000526242.1 UniProtKB/TrEMBL
  ENST00000526397.5 UniProtKB/TrEMBL
  ENST00000526638.1 UniProtKB/TrEMBL
  ENST00000528760.1 UniProtKB/TrEMBL
  ENST00000528990.1 UniProtKB/TrEMBL
  ENST00000529643.1 UniProtKB/TrEMBL
  ENST00000530284.5 UniProtKB/TrEMBL
  ENST00000532356.5 UniProtKB/TrEMBL
  ENST00000533449 ENTREZGENE
  ENST00000533449.6 UniProtKB/TrEMBL
  ENST00000533603 ENTREZGENE
  ENST00000533603.5 UniProtKB/Swiss-Prot
  ENST00000649490.1 UniProtKB/TrEMBL
Gene3D-CATH 2.30.39.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  3.30.497.10 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
GTEx ENSG00000149257 GTEx
HGNC ID HGNC:1546 ENTREZGENE
Human Proteome Map SERPINH1 Human Proteome Map
InterPro Serpin_CS UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_dom UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_fam UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_H1_domain UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  Serpin_sf_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:871 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
NCBI Gene 871 ENTREZGENE
OMIM 600943 OMIM
PANTHER PTHR11461 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  PTHR11461:SF27 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Pfam Serpin UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB PA35034 PharmGKB
PROSITE ER_TARGET UniProtKB/Swiss-Prot
  SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART SERPIN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Superfamily-SCOP SSF56574 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A8K259 ENTREZGENE, UniProtKB/TrEMBL
  B3KVJ3 ENTREZGENE
  E9PIG2_HUMAN UniProtKB/TrEMBL
  E9PJH8_HUMAN UniProtKB/TrEMBL
  E9PK86_HUMAN UniProtKB/TrEMBL
  E9PKH2_HUMAN UniProtKB/TrEMBL
  E9PLA6_HUMAN UniProtKB/TrEMBL
  E9PMI5_HUMAN UniProtKB/TrEMBL
  E9PNX1_HUMAN UniProtKB/TrEMBL
  E9PPV6_HUMAN UniProtKB/TrEMBL
  E9PQ34_HUMAN UniProtKB/TrEMBL
  E9PR70_HUMAN UniProtKB/TrEMBL
  E9PRS3_HUMAN UniProtKB/TrEMBL
  H0YEP8_HUMAN UniProtKB/TrEMBL
  P29043 ENTREZGENE
  P50454 ENTREZGENE
  Q5XPB4 ENTREZGENE
  Q6NSJ6 ENTREZGENE
  Q8IY96 ENTREZGENE
  Q9NP88 ENTREZGENE
  SERPH_HUMAN UniProtKB/Swiss-Prot
UniProt Secondary B3KVJ3 UniProtKB/Swiss-Prot
  P29043 UniProtKB/Swiss-Prot
  Q5XPB4 UniProtKB/Swiss-Prot
  Q6NSJ6 UniProtKB/Swiss-Prot
  Q8IY96 UniProtKB/Swiss-Prot
  Q9NP88 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-04-12 SERPINH1  serpin family H member 1    serpin peptidase inhibitor, clade H (heat shock protein 47), member 1, (collagen binding protein 1)  Symbol and/or name change 5135510 APPROVED