EDNRB (endothelin receptor type B) - Rat Genome Database

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Gene: EDNRB (endothelin receptor type B) Homo sapiens
Analyze
Symbol: EDNRB
Name: endothelin receptor type B
RGD ID: 736090
HGNC Page HGNC:3180
Description: Enables endothelin receptor activity and peptide hormone binding activity. Involved in several processes, including macrophage chemotaxis; negative regulation of nitrogen compound metabolic process; and vein smooth muscle contraction. Located in plasma membrane. Implicated in ABCD syndrome; Hirschsprung's disease; Waardenburg syndrome type 4A; Waardenburg's syndrome; and asthma. Biomarker of pulmonary hypertension.
Type: protein-coding
RefSeq Status: REVIEWED
Previously known as: ABCDS; endothelin B receptor; endothelin receptor non-selective type; endothelin receptor subtype B1; ET-B; ET-BR; ETB; ETB1; ETBR; ETRB; Hirschsprung disease 2; HSCR; HSCR2; LINC00439; long intergenic non-protein coding RNA 439; WS4A
RGD Orthologs
Mouse
Rat
Chinchilla
Bonobo
Dog
Squirrel
Pig
Green Monkey
Naked Mole-Rat
Alliance Genes
More Info more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381377,895,481 - 77,975,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1377,895,481 - 77,975,529 (-)EnsemblGRCh38hg38GRCh38
GRCh371378,469,616 - 78,549,662 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361377,367,617 - 77,447,665 (-)NCBINCBI36Build 36hg18NCBI36
Build 341377,368,543 - 77,390,935NCBI
Celera1359,367,540 - 59,390,895 (-)NCBICelera
Cytogenetic Map13q22.3NCBI
HuRef1359,168,348 - 59,248,390 (-)NCBIHuRef
CHM1_11378,436,966 - 78,516,998 (-)NCBICHM1_1
T2T-CHM13v2.01377,120,403 - 77,200,427 (-)NCBIT2T-CHM13v2.0
JBrowse: View Region in Genome Browser (JBrowse)
Model


Gene-Chemical Interaction Annotations     Click to see Annotation Detail View
(-)-epigallocatechin 3-gallate  (EXP)
(R)-noradrenaline  (ISO)
(S)-colchicine  (ISO)
(S)-nicotine  (ISO)
1,2-dimethylhydrazine  (ISO)
17alpha-ethynylestradiol  (EXP)
17beta-estradiol  (EXP)
2,3,7,8-tetrachlorodibenzodioxine  (EXP,ISO)
2-acetyl-1-alkyl-sn-glycero-3-phosphocholine  (ISO)
2-butoxyethanol  (ISO)
2-hydroxypropanoic acid  (EXP)
3'-amino-3'-deoxy-N(6),N(6)-dimethyladenosine  (ISO)
3,4-methylenedioxymethamphetamine  (ISO)
3-\{1-[3-(dimethylamino)propyl]-1H-indol-3-yl\}-4-(1H-indol-3-yl)-1H-pyrrole-2,5-dione  (ISO)
3-isobutyl-1-methyl-7H-xanthine  (EXP)
3H-1,2-dithiole-3-thione  (ISO)
4,4'-sulfonyldiphenol  (EXP)
4-hydroxyphenyl retinamide  (ISO)
5-fluorouracil  (EXP)
6-propyl-2-thiouracil  (ISO)
6alpha-methylprednisolone  (ISO)
7,12-dimethyltetraphene  (ISO)
7-NITROINDAZOLE  (ISO)
8-bromo-3',5'-cyclic GMP  (ISO)
acetamide  (ISO)
acetylsalicylic acid  (EXP)
acrylamide  (EXP,ISO)
actinomycin D  (ISO)
all-trans-retinoic acid  (EXP)
ammonium chloride  (ISO)
amphotericin B  (EXP)
angiotensin II  (ISO)
anthra[1,9-cd]pyrazol-6(2H)-one  (ISO)
arsane  (ISO)
arsenic atom  (ISO)
arsenous acid  (EXP)
atrasentan  (ISO)
belinostat  (EXP)
benzo[a]pyrene  (EXP,ISO)
benzo[a]pyrene diol epoxide I  (EXP)
benzo[b]fluoranthene  (ISO)
bexarotene  (ISO)
bis(2-ethylhexyl) phthalate  (ISO)
bisphenol A  (EXP,ISO)
bisphenol F  (ISO)
bosentan  (EXP)
cadmium atom  (EXP)
cadmium dichloride  (EXP)
calcitriol  (ISO)
carbon nanotube  (ISO)
celecoxib  (ISO)
CGP 52608  (EXP)
chlorambucil  (ISO)
chloroprene  (ISO)
chlorpyrifos  (ISO)
choline  (ISO)
chromium atom  (ISO)
chrysene  (ISO)
cisplatin  (EXP)
cocaine  (ISO)
copper atom  (ISO)
copper(0)  (ISO)
Cuprizon  (ISO)
cycloheximide  (ISO)
cyclophosphamide  (EXP)
cyclosporin A  (ISO)
daunorubicin  (ISO)
dexamethasone  (EXP,ISO)
diarsenic trioxide  (EXP)
dibenz[a,h]anthracene  (ISO)
dibutyl phthalate  (ISO)
dimethyl sulfoxide  (ISO)
dioxygen  (EXP,ISO)
dorsomorphin  (EXP)
endosulfan  (ISO)
enrasentan  (EXP)
entinostat  (EXP)
ethanol  (EXP,ISO)
etoposide  (ISO)
fenoterol  (EXP)
folic acid  (ISO)
fulvestrant  (EXP)
gefitinib  (ISO)
genistein  (ISO)
gentamycin  (EXP,ISO)
hydrogen cyanide  (ISO)
Ile(5)-angiotensin II  (ISO)
indometacin  (EXP)
isoprenaline  (ISO)
isoquinoline-1,5-diol  (ISO)
L-ascorbic acid  (ISO)
L-methionine  (ISO)
lead diacetate  (EXP)
mercury dibromide  (EXP)
methotrexate  (ISO)
methylmercury chloride  (EXP)
methylseleninic acid  (EXP)
mifepristone  (EXP)
MK-2206  (EXP)
N(gamma)-nitro-L-arginine methyl ester  (ISO)
N-[2-(4-bromocinnamylamino)ethyl]isoquinoline-5-sulfonamide  (ISO)
N-[3,5-bis(trifluoromethyl)phenyl]-5-chloro-2-hydroxybenzamide  (ISO)
N-ethyl-N-nitrosourea  (ISO)
N-methyl-N-nitrosourea  (ISO)
N-nitrosodiethylamine  (ISO)
nicotine  (ISO)
nicotinic acid  (ISO)
nimesulide  (EXP)
nitric oxide  (ISO)
nitrites  (ISO)
nitrofen  (ISO)
nitroprusside  (ISO)
Nonylphenol  (ISO)
ozone  (ISO)
panobinostat  (EXP)
paracetamol  (EXP,ISO)
paricalcitol  (EXP)
phenobarbital  (ISO)
phenylephrine  (ISO)
phenylmercury acetate  (EXP)
phosphoramidon  (ISO)
phosphorus atom  (EXP)
phosphorus(.)  (EXP)
picrotoxin  (ISO)
potassium chloride  (ISO)
potassium chromate  (EXP)
potassium cyanide  (ISO)
progesterone  (EXP)
quercetin  (EXP,ISO)
rac-lactic acid  (EXP)
rofecoxib  (EXP)
SB 203580  (ISO)
SB 431542  (EXP)
SB-239063  (ISO)
serpentine asbestos  (EXP)
sodium arsenite  (EXP,ISO)
sodium chloride  (ISO)
sorafenib  (ISO)
staurosporine  (ISO)
Tanshinone I  (ISO)
telmisartan  (ISO)
testosterone  (ISO)
testosterone enanthate  (EXP)
tetrachloromethane  (ISO)
tetraphene  (ISO)
thimerosal  (EXP)
thioacetamide  (ISO)
titanium dioxide  (ISO)
trichloroethene  (ISO)
trichostatin A  (EXP)
troglitazone  (ISO)
U-73122  (ISO)
udenafil  (ISO)
urethane  (ISO)
valproic acid  (EXP)
venlafaxine hydrochloride  (ISO)
vincaleukoblastine  (ISO)
vincristine  (ISO)
vorinostat  (EXP)
wedelolactone  (ISO)
zinc atom  (ISO)
zinc sulfate  (ISO)
zinc(0)  (ISO)

Gene Ontology Annotations     Click to see Annotation Detail View

Biological Process
aging  (IEA,ISO)
aldosterone metabolic process  (IEA)
blood circulation  (IEA)
calcium ion transmembrane transport  (IEA)
calcium-mediated signaling  (IMP)
canonical Wnt signaling pathway  (IEA)
cell surface receptor signaling pathway  (TAS)
cellular response to lipopolysaccharide  (IEA,ISO)
cGMP-mediated signaling  (IEA,ISO)
developmental pigmentation  (IBA,IEA,ISO)
endothelin receptor signaling pathway  (IBA,IDA,IEA,IMP)
enteric nervous system development  (IEA,ISS)
enteric smooth muscle cell differentiation  (IEA,ISS)
epithelial fluid transport  (IEA,ISO)
establishment of endothelial barrier  (IEA)
G protein-coupled receptor signaling pathway  (IEA,ISO)
gene expression  (IEA)
heparin metabolic process  (IEA)
I-kappaB kinase/NF-kappaB signaling  (IEA)
intracellular signal transduction  (IEA)
macrophage chemotaxis  (IMP)
melanocyte differentiation  (IEA,ISO)
negative regulation of adenylate cyclase activity  (TAS)
negative regulation of apoptotic process  (IEA,ISO)
negative regulation of neuron maturation  (IEA,ISS)
negative regulation of protein metabolic process  (IMP)
negative regulation of transcription by RNA polymerase II  (IEA,IMP,ISS)
nervous system development  (TAS)
neural crest cell migration  (IEA,ISO)
neuroblast migration  (IEA,ISO)
peripheral nervous system development  (IEA,ISO)
pharynx development  (IEA)
phospholipase C-activating G protein-coupled receptor signaling pathway  (IEA,ISO,TAS)
pigmentation  (IEA,ISO)
podocyte differentiation  (IEA)
positive regulation of cell population proliferation  (IEA,ISO)
positive regulation of cytosolic calcium ion concentration  (IEA,ISO)
positive regulation of penile erection  (IEA,ISO)
positive regulation of protein phosphorylation  (IEA,ISO)
positive regulation of renal sodium excretion  (IEA,ISO)
positive regulation of urine volume  (IEA,ISO)
posterior midgut development  (IEA,ISO)
protein transmembrane transport  (IEA)
regulation of biological quality  (IEA)
regulation of blood pressure  (IEA,ISO)
regulation of epithelial cell proliferation  (IEA,ISO)
regulation of fever generation  (IEA,ISO)
regulation of heart rate  (IEA)
regulation of pH  (IEA,ISO)
regulation of sensory perception of pain  (IEA,ISO)
renal albumin absorption  (IEA)
renal sodium excretion  (IEA)
renal sodium ion absorption  (IEA)
renin secretion into blood stream  (IEA)
response to endothelin  (IEA,ISO)
response to lipopolysaccharide  (IEA,ISO)
response to organic cyclic compound  (IEA,ISO)
response to organic substance  (IEA)
response to pain  (IEA,ISO)
response to sodium phosphate  (IEA)
sensory perception of pain  (IEA,ISO)
signal transduction  (IEA)
sodium ion homeostasis  (IEA)
vasoconstriction  (IBA,IEA,IMP,ISO)
vasodilation  (IEA,ISO)
vein smooth muscle contraction  (IMP)

Cellular Component
membrane  (IEA,ISO)
membrane raft  (IEA,ISO)
nuclear membrane  (IEA,ISO)
plasma membrane  (IBA,IDA,IEA,ISO,TAS)

Molecular Function

Molecular Pathway Annotations     Click to see Annotation Detail View
Phenotype Annotations     Click to see Annotation Detail View

Human Phenotype
References

References - curated
# Reference Title Reference Citation
1. Mutation of the endothelin-receptor B gene in Waardenburg-Hirschsprung disease. Attie T, etal., Hum Mol Genet. 1995 Dec;4(12):2407-9.
2. Endothelin-1 receptor subtypes expression and binding in a perfused rat model of myocardial infarction. Bikhazi AB, etal., Comp Biochem Physiol C Toxicol Pharmacol. 2003 Jan;134(1):35-43.
3. Increased ET-1 and reduced ET(B) receptor expression in uremic hypertensive rats. D'Amours M, etal., Clin Exp Hypertens. 2010 Jan;32(1):61-9.
4. Lymphopenia in Ednrb-deficient rat was strongly modified by genetic background. Dang R, etal., Biomed Res. 2012;33(4):249-53.
5. QTL analysis identifies a modifier locus of aganglionosis in the rat model of Hirschsprung disease carrying Ednrb(sl) mutations. Dang R, etal., PLoS One. 2011;6(11):e27902. Epub 2011 Nov 22.
6. Genetic background strongly modifies the severity of symptoms of Hirschsprung disease, but not hearing loss in rats carrying Ednrb(sl) mutations. Dang R, etal., PLoS One. 2011;6(9):e24086. Epub 2011 Sep 7.
7. Endotoxin causes pulmonary hypertension by upregulating smooth muscle endothelin type-B receptors: role of aldose reductase. Dschietzig T, etal., Shock. 2008 Aug;30(2):189-96.
8. Transgenic expression of the endothelin-B receptor prevents congenital intestinal aganglionosis in a rat model of Hirschsprung disease. Gariepy CE, etal., J Clin Invest 1998 Sep 15;102(6):1092-101.
9. Salt-sensitive hypertension in endothelin-B receptor-deficient rats. Gariepy CE, etal., J Clin Invest 2000 Apr;105(7):925-33.
10. Null mutation of endothelin receptor type B gene in spotting lethal rats causes aganglionic megacolon and white coat color. Gariepy CE, etal., Proc Natl Acad Sci U S A 1996 Jan 23;93(2):867-72.
11. GOAs Human GO annotations GOA_HUMAN data from the GO Consortium
12. Polymorphisms in genes of the endothelin system and cerebral small-vessel disease. Gormley K, etal., Stroke. 2005 Aug;36(8):1656-60. Epub 2005 Jul 7.
13. Up-regulation of endothelin receptor function and mRNA expression in airway smooth muscle cells following Sephadex-induced airway inflammation. Granstrom BW, etal., Basic Clin Pharmacol Toxicol. 2004 Jul;95(1):43-8.
14. QTL analysis of modifiers for pigmentary disorder in rats carrying Ednrb(sl) mutations. Huang J, etal., Sci Rep. 2016 Jan 22;6:19697. doi: 10.1038/srep19697.
15. Increased immunoreactivity of endothelin-1 and endothelin B receptor in human atherosclerotic lesions. A possible role in atherogenesis. Iwasa S, etal., Atherosclerosis. 1999 Sep;146(1):93-100.
16. Endothelin 1 and 3 enhance neuronal nitric oxide synthase activity through ETB receptors involving multiple signaling pathways in the rat anterior hypothalamus. Jaureguiberry MS, etal., Peptides. 2004 Jul;25(7):1133-8.
17. The role of ET(A) and ET(B) receptor antagonists in acute and allergic inflammation in mice. Kassuya CA, etal., Peptides. 2008 Aug;29(8):1329-37. Epub 2008 Mar 16.
18. Novel mutations of the endothelin-B receptor gene in isolated patients with Hirschsprung's disease. Kusafuka T, etal., Hum Mol Genet. 1996 Mar;5(3):347-9.
19. Effect of pyrrolidine dithiocarbamate on hepatic vascular stress gene expression during ischemia and reperfusion. Lee CH, etal., Eur J Pharmacol. 2008 Oct 24;595(1-3):100-7. Epub 2008 Aug 9.
20. Involvement of NO and MEK/ERK pathway in enhancement of endothelin-1-induced mesenteric artery contraction in later-stage type 2 diabetic Goto-Kakizaki rat. Matsumoto T, etal., Am J Physiol Heart Circ Physiol. 2009 May;296(5):H1388-97. Epub 2009 Mar 13.
21. Inhibitory effects of PPAR-gamma on endothelin-1-induced inflammatory pathways in vascular smooth muscle cells from normotensive and hypertensive rats. Montezano AC, etal., J Am Soc Hypertens. 2007 Mar-Apr;1(2):150-60.
22. Polymorphisms of the endothelin-A and -B receptor genes in relation to blood pressure and myocardial infarction: the Etude Cas-Temoins sur l'Infarctus du Myocarde (ECTIM) Study. Nicaud V, etal., Am J Hypertens. 1999 Mar;12(3):304-10.
23. Roles of endothelin ETA and ETB receptors in the pathogenesis of monocrotaline-induced pulmonary hypertension. Nishida M, etal., J Cardiovasc Pharmacol. 2004 Aug;44(2):187-91.
24. Endothelin-1 (ET-1) is increased in rat retina after crushing optic nerve. Oku H, etal., Curr Eye Res. 2008 Jul;33(7):611-20.
25. OMIM Disease Annotation Pipeline OMIM Disease Annotation Pipeline
26. PID Annotation Import Pipeline Pipeline to import Pathway Interaction Database annotations from NCI into RGD
27. A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease. Puffenberger EG, etal., Cell. 1994 Dec 30;79(7):1257-66.
28. ClinVar Automated Import and Annotation Pipeline RGD automated import pipeline for ClinVar variants, variant-to-disease annotations and gene-to-disease annotations
29. Data Import for Chemical-Gene Interactions RGD automated import pipeline for gene-chemical interactions
30. RGD HPO Phenotype Annotation Pipeline RGD automated import pipeline for human HPO-to-gene-to-disease annotations
31. ETB receptor polymorphism is associated with airway obstruction. Taille C, etal., BMC Pulm Med. 2007 Apr 30;7:5.
32. BMPR2 mutation alters the lung macrophage endothelin-1 cascade in a mouse model and patients with heritable pulmonary artery hypertension. Talati M, etal., Am J Physiol Lung Cell Mol Physiol. 2010 Sep;299(3):L363-73. Epub 2010 Jun 18.
33. Effects of exogenous big endothelin-1 on postischemic cardiac dysfunction and norepinephrine overflow in rat hearts. Tawa M, etal., Hypertens Res. 2011 Feb;34(2):218-24. Epub 2010 Nov 4.
34. Ischemic heart disease induces upregulation of endothelin receptor mRNA in human coronary arteries. Wackenfors A, etal., Eur J Pharmacol. 2004 Jan 19;484(1):103-9.
35. Pentoxifylline attenuation of experimental hepatopulmonary syndrome. Zhang J, etal., J Appl Physiol. 2007 Mar;102(3):949-55. Epub 2006 Nov 16.
36. [Effect and mechanism of salvianolic acid B in attenuating elevated portal pressure in a rat model of portal hypertension induced by endothelin-1]. Zhou Y, etal., Zhong Xi Yi Jie He Xue Bao. 2007 Jan;5(1):61-4.
Additional References at PubMed
PMID:1282938   PMID:1291713   PMID:1648908   PMID:1659806   PMID:1710450   PMID:1713452   PMID:2175394   PMID:7509919   PMID:7866430   PMID:7987295   PMID:8001160   PMID:8429023  
PMID:8440682   PMID:8630503   PMID:8810293   PMID:8852659   PMID:8852660   PMID:8982507   PMID:9211925   PMID:9261180   PMID:9284755   PMID:9359036   PMID:9556633   PMID:9760196  
PMID:10072757   PMID:10090908   PMID:10510297   PMID:10528251   PMID:10789830   PMID:11054415   PMID:11376172   PMID:11471546   PMID:11565556   PMID:11601839   PMID:11829485   PMID:11854280  
PMID:11891690   PMID:11920632   PMID:11930911   PMID:11982704   PMID:12117726   PMID:12135322   PMID:12189494   PMID:12207323   PMID:12226103   PMID:12355085   PMID:12439722   PMID:12477932  
PMID:12544508   PMID:12628594   PMID:12629276   PMID:12694195   PMID:12805445   PMID:12875994   PMID:12972292   PMID:14519635   PMID:14636059   PMID:14669347   PMID:15073116   PMID:15213100  
PMID:15350137   PMID:15489334   PMID:15598844   PMID:15838263   PMID:15838285   PMID:15950764   PMID:15988412   PMID:16145050   PMID:16328051   PMID:16531800   PMID:16567585   PMID:16754659  
PMID:16816835   PMID:16944573   PMID:16947775   PMID:16962346   PMID:17009072   PMID:17011274   PMID:17202412   PMID:17203161   PMID:17353514   PMID:17525706   PMID:17535295   PMID:17554617  
PMID:17611649   PMID:17616673   PMID:17618893   PMID:17855483   PMID:18060649   PMID:18157142   PMID:18162831   PMID:18187958   PMID:18310504   PMID:18411415   PMID:18535108   PMID:18551992  
PMID:18564167   PMID:18577758   PMID:18660489   PMID:18756291   PMID:18758497   PMID:18778461   PMID:19040731   PMID:19136571   PMID:19148482   PMID:19320733   PMID:19536618   PMID:19558538  
PMID:19661472   PMID:19706169   PMID:19757321   PMID:19767294   PMID:19853744   PMID:19913121   PMID:20009762   PMID:20028935   PMID:20034471   PMID:20043107   PMID:20108069   PMID:20162572  
PMID:20301612   PMID:20346360   PMID:20401344   PMID:20427706   PMID:20495744   PMID:20595785   PMID:20628086   PMID:20698855   PMID:20703215   PMID:20798208   PMID:21057729   PMID:21116278  
PMID:21223556   PMID:21264540   PMID:21356562   PMID:21418087   PMID:21498912   PMID:21507037   PMID:21547364   PMID:21601190   PMID:21770857   PMID:21777246   PMID:21825025   PMID:21858821  
PMID:21873635   PMID:22013079   PMID:22213152   PMID:22341591   PMID:22365955   PMID:22504006   PMID:22535604   PMID:22553998   PMID:22580289   PMID:22688668   PMID:22787113   PMID:22865454  
PMID:22965194   PMID:22997346   PMID:23384184   PMID:23436727   PMID:23515723   PMID:23518706   PMID:23548203   PMID:23579558   PMID:23597562   PMID:23637120   PMID:23683481   PMID:24039914  
PMID:24145738   PMID:24265756   PMID:24275556   PMID:24326135   PMID:24357795   PMID:24379252   PMID:24482377   PMID:24511587   PMID:24549269   PMID:24582810   PMID:24633486   PMID:24651527  
PMID:24726125   PMID:24995714   PMID:25118007   PMID:25232999   PMID:25381251   PMID:25433721   PMID:25479176   PMID:25572612   PMID:25638620   PMID:25799405   PMID:25946671   PMID:26030901  
PMID:26240367   PMID:26308584   PMID:26395553   PMID:26645886   PMID:27134165   PMID:27193723   PMID:27422754   PMID:27485004   PMID:27595334   PMID:27863272   PMID:28095606   PMID:28236341  
PMID:28350619   PMID:28385784   PMID:28438762   PMID:28514442   PMID:28606962   PMID:28732172   PMID:28817788   PMID:29042489   PMID:29097630   PMID:29409474   PMID:29484400   PMID:29789608  
PMID:29999581   PMID:30332284   PMID:30394532   PMID:30413709   PMID:30768923   PMID:30801683   PMID:30900271   PMID:31150867   PMID:31313802   PMID:31427586   PMID:31506927   PMID:31724455  
PMID:31926772   PMID:32001000   PMID:32343134   PMID:32394530   PMID:32559137   PMID:32744876   PMID:32990402   PMID:33138797   PMID:33178831   PMID:33234331   PMID:33500549   PMID:33919338  
PMID:33961781   PMID:34737440   PMID:35301649   PMID:35757687   PMID:36331148   PMID:36430296  


Genomics

Comparative Map Data
EDNRB
(Homo sapiens - human)
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381377,895,481 - 77,975,527 (-)NCBIGRCh38GRCh38hg38GRCh38
GRCh38.p13 Ensembl1377,895,481 - 77,975,529 (-)EnsemblGRCh38hg38GRCh38
GRCh371378,469,616 - 78,549,662 (-)NCBIGRCh37GRCh37hg19GRCh37
Build 361377,367,617 - 77,447,665 (-)NCBINCBI36Build 36hg18NCBI36
Build 341377,368,543 - 77,390,935NCBI
Celera1359,367,540 - 59,390,895 (-)NCBICelera
Cytogenetic Map13q22.3NCBI
HuRef1359,168,348 - 59,248,390 (-)NCBIHuRef
CHM1_11378,436,966 - 78,516,998 (-)NCBICHM1_1
T2T-CHM13v2.01377,120,403 - 77,200,427 (-)NCBIT2T-CHM13v2.0
Ednrb
(Mus musculus - house mouse)
Mouse AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCm3914104,052,051 - 104,083,248 (-)NCBIGRCm39GRCm39mm39
GRCm39 Ensembl14104,052,061 - 104,081,838 (-)EnsemblGRCm39 Ensembl
GRCm3814103,814,615 - 103,844,508 (-)NCBIGRCm38GRCm38mm10GRCm38
GRCm38.p6 Ensembl14103,814,625 - 103,844,402 (-)EnsemblGRCm38mm10GRCm38
MGSCv3714104,213,842 - 104,243,390 (-)NCBIGRCm37MGSCv37mm9NCBIm37
MGSCv3614102,700,305 - 102,729,375 (-)NCBIMGSCv36mm8
Celera14102,434,540 - 102,464,042 (-)NCBICelera
Cytogenetic Map14E2.3NCBI
cM Map1453.05NCBI
Ednrb
(Rattus norvegicus - Norway rat)
Rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
mRatBN7.21580,640,839 - 80,672,115 (-)NCBImRatBN7.2mRatBN7.2
mRatBN7.2 Ensembl1580,643,043 - 80,672,115 (-)EnsemblmRatBN7.2 Ensembl
UTH_Rnor_SHR_Utx1584,622,892 - 84,651,923 (-)NCBIRnor_SHR
UTH_Rnor_SHRSP_BbbUtx_1.01585,745,953 - 85,774,986 (-)NCBIRnor_SHRSP
UTH_Rnor_WKY_Bbb_1.01582,673,598 - 82,702,629 (-)NCBIRnor_WKY
Rnor_6.01588,004,775 - 88,036,354 (-)NCBIRnor6.0Rnor_6.0rn6Rnor6.0
Rnor_6.0 Ensembl1588,006,977 - 88,036,354 (-)EnsemblRnor6.0rn6Rnor6.0
Rnor_5.01591,500,400 - 91,531,979 (-)NCBIRnor5.0Rnor_5.0rn5Rnor5.0
RGSC_v3.41587,893,141 - 87,898,700 (-)NCBIRGSC3.4RGSC_v3.4rn4RGSC3.4
RGSC_v3.11587,908,924 - 87,914,471 (-)NCBI
Celera1579,772,740 - 79,801,760 (-)NCBICelera
RH 3.4 Map15496.21RGD
Cytogenetic Map15q22NCBI
Ednrb
(Chinchilla lanigera - long-tailed chinchilla)
Chinchilla AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChiLan1.0 EnsemblNW_00495540429,394,164 - 29,425,358 (+)EnsemblChiLan1.0
ChiLan1.0NW_00495540429,394,253 - 29,425,358 (+)NCBIChiLan1.0ChiLan1.0
EDNRB
(Pan paniscus - bonobo/pygmy chimpanzee)
Bonobo AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
PanPan1.11378,153,026 - 78,177,281 (-)NCBIpanpan1.1PanPan1.1panPan2
PanPan1.1 Ensembl1378,153,020 - 78,177,286 (-)Ensemblpanpan1.1panPan2
Mhudiblu_PPA_v01359,112,349 - 59,136,615 (-)NCBIMhudiblu_PPA_v0Mhudiblu_PPA_v0panPan3
EDNRB
(Canis lupus familiaris - dog)
Dog AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
CanFam3.12231,415,324 - 31,438,772 (-)NCBICanFam3.1CanFam3.1canFam3CanFam3.1
CanFam3.1 Ensembl2231,417,308 - 31,437,587 (-)EnsemblCanFam3.1canFam3CanFam3.1
Dog10K_Boxer_Tasha2231,277,699 - 31,297,545 (-)NCBIDog10K_Boxer_Tasha
ROS_Cfam_1.02231,733,123 - 31,756,544 (-)NCBIROS_Cfam_1.0
ROS_Cfam_1.0 Ensembl2231,733,292 - 31,756,408 (-)EnsemblROS_Cfam_1.0 Ensembl
UMICH_Zoey_3.12231,396,562 - 31,416,398 (-)NCBIUMICH_Zoey_3.1
UNSW_CanFamBas_1.02231,434,803 - 31,454,631 (-)NCBIUNSW_CanFamBas_1.0
UU_Cfam_GSD_1.02231,507,052 - 31,526,893 (-)NCBIUU_Cfam_GSD_1.0
Ednrb
(Ictidomys tridecemlineatus - thirteen-lined ground squirrel)
Squirrel AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HiC_Itri_2NW_024404945128,029,566 - 128,061,207 (+)NCBIHiC_Itri_2
SpeTri2.0 EnsemblNW_0049365113,446,839 - 3,478,434 (+)EnsemblSpeTri2.0
SpeTri2.0NW_0049365113,446,864 - 3,478,434 (+)NCBISpeTri2.0SpeTri2.0SpeTri2.0
EDNRB
(Sus scrofa - pig)
Pig AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
Sscrofa11.1 Ensembl1150,072,554 - 50,102,884 (-)EnsemblSscrofa11.1susScr11Sscrofa11.1
Sscrofa11.11150,073,300 - 50,102,879 (-)NCBISscrofa11.1Sscrofa11.1susScr11Sscrofa11.1
Sscrofa10.21154,689,465 - 54,718,898 (-)NCBISscrofa10.2Sscrofa10.2susScr3
EDNRB
(Chlorocebus sabaeus - green monkey)
Green Monkey AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
ChlSab1.1356,969,493 - 56,993,719 (-)NCBIChlSab1.1ChlSab1.1chlSab2
ChlSab1.1 Ensembl356,969,101 - 56,992,731 (-)EnsemblChlSab1.1ChlSab1.1 EnsemblchlSab2
Vero_WHO_p1.0NW_02366604613,190,167 - 13,214,545 (-)NCBIVero_WHO_p1.0Vero_WHO_p1.0
Ednrb
(Heterocephalus glaber - naked mole-rat)
Naked Mole-rat AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
HetGla_female_1.0 EnsemblNW_00462475122,459,584 - 22,491,606 (+)EnsemblHetGla_female_1.0HetGla_female_1.0 EnsemblhetGla2
HetGla 1.0NW_00462475122,459,613 - 22,491,409 (+)NCBIHetGla_female_1.0HetGla 1.0hetGla2

Variants

.
Variants in EDNRB
187 total Variants

Clinical Variants
Name Type Condition(s) Position(s) Clinical significance
NM_001122659.3(EDNRB):c.344G>A (p.Gly115Glu) single nucleotide variant not provided [RCV000521877] Chr13:77918230 [GRCh38]
Chr13:78492365 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.877dup (p.Tyr293fs) duplication Hirschsprung disease, susceptibility to, 2 [RCV000018116] Chr13:77901131..77901132 [GRCh38]
Chr13:78475266..78475267 [GRCh37]
Chr13:13q22.3		 risk factor
NM_001122659.3(EDNRB):c.828G>T (p.Trp276Cys) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000018112]|Waardenburg syndrome type 4A [RCV000018113] Chr13:77901181 [GRCh38]
Chr13:78475316 [GRCh37]
Chr13:13q22.3		 pathogenic|risk factor
NM_001122659.3(EDNRB):c.548C>G (p.Ala183Gly) single nucleotide variant Waardenburg syndrome type 4A [RCV000018114] Chr13:77903543 [GRCh38]
Chr13:78477678 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.824G>A (p.Trp275Ter) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000018115] Chr13:77901185 [GRCh38]
Chr13:78475320 [GRCh37]
Chr13:13q22.3		 risk factor
NM_001122659.3(EDNRB):c.169G>A (p.Gly57Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000018117]|not provided [RCV000224294]|not specified [RCV000216329] Chr13:77918405 [GRCh38]
Chr13:78492540 [GRCh37]
Chr13:13q22.3		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122659.3(EDNRB):c.914G>A (p.Ser305Asn) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000018118]|Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type), autosomal dominant [RCV001258252]|Waardenburg syndrome type 2A [RCV000626404]|Waardenburg syndrome type 4A [RCV000659497]|not provided [RCV000954472]|not specified [RCV000222856] Chr13:77901095 [GRCh38]
Chr13:78475230 [GRCh37]
Chr13:13q22.3		 risk factor|benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122659.3(EDNRB):c.757C>T (p.Arg253Ter) single nucleotide variant Waardenburg syndrome type 4A [RCV000018119]|not provided [RCV001851902] Chr13:77903200 [GRCh38]
Chr13:78477335 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
NM_001122659.3(EDNRB):c.601C>T (p.Arg201Ter) single nucleotide variant ABCD syndrome [RCV000018120]|Waardenburg syndrome type 4A [RCV000659496]|not provided [RCV001092078] Chr13:77903356 [GRCh38]
Chr13:78477491 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_000115.5(EDNRB):c.-51-949A>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000018121] Chr13:77919573 [GRCh38]
Chr13:78493708 [GRCh37]
Chr13:13q22.3		 risk factor
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000050293] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q14.12-31.3(chr13:44967523-92738168)x1 copy number loss See cases [RCV000050891] Chr13:44967523..92738168 [GRCh38]
Chr13:45541658..93390421 [GRCh37]
Chr13:44439658..92188422 [NCBI36]
Chr13:13q14.12-31.3		 pathogenic
GRCh38/hg38 13q22.3(chr13:77776013-78349185)x3 copy number gain See cases [RCV000052013] Chr13:77776013..78349185 [GRCh38]
Chr13:78350148..78923320 [GRCh37]
Chr13:77248149..77821321 [NCBI36]
Chr13:13q22.3		 uncertain significance
GRCh38/hg38 13q22.3(chr13:77786162-78345485)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052027]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000052027]|See cases [RCV000052027] Chr13:77786162..78345485 [GRCh38]
Chr13:78360297..78919620 [GRCh37]
Chr13:77258298..77817621 [NCBI36]
Chr13:13q22.3		 uncertain significance
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000053731] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q12.3-31.1(chr13:30318913-83610426)x3 copy number gain See cases [RCV000053737] Chr13:30318913..83610426 [GRCh38]
Chr13:30893050..84184561 [GRCh37]
Chr13:29791050..83082562 [NCBI36]
Chr13:13q12.3-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3 copy number gain See cases [RCV000053719] Chr13:18565048..114327173 [GRCh38]
Chr13:19139188..115085141 [GRCh37]
Chr13:18037188..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3 copy number gain See cases [RCV000053723] Chr13:18850545..114327173 [GRCh38]
Chr13:19296527..115085141 [GRCh37]
Chr13:18194527..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3 copy number gain See cases [RCV000053726] Chr13:18946182..114304628 [GRCh38]
Chr13:19520322..115070103 [GRCh37]
Chr13:18418322..114088205 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q13.2-34(chr13:33528097-114327173)x3 copy number gain See cases [RCV000053759] Chr13:33528097..114327173 [GRCh38]
Chr13:34102234..115085141 [GRCh37]
Chr13:33000234..114110750 [NCBI36]
Chr13:13q13.2-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:43219125-114327314)x3 copy number gain See cases [RCV000053762] Chr13:43219125..114327314 [GRCh38]
Chr13:43793261..115085141 [GRCh37]
Chr13:42691261..114110891 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:44164751-114327173)x3 copy number gain See cases [RCV000053764] Chr13:44164751..114327173 [GRCh38]
Chr13:44738887..115085141 [GRCh37]
Chr13:43636887..114110750 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q14.12-34(chr13:44733046-114327173)x3 copy number gain See cases [RCV000053767] Chr13:44733046..114327173 [GRCh38]
Chr13:45307182..115085141 [GRCh37]
Chr13:44205182..114110750 [NCBI36]
Chr13:13q14.12-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:71509212-82146085)x3 copy number gain Developmental Delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|Developmental delay and additional significant developmental and morphological phenotypes referred for genetic testing [RCV000053768]|See cases [RCV000053768] Chr13:71509212..82146085 [GRCh38]
Chr13:72083344..82720220 [GRCh37]
Chr13:70981345..81618221 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q22.1-34(chr13:74345951-114327314)x3 copy number gain See cases [RCV000053770] Chr13:74345951..114327314 [GRCh38]
Chr13:74920088..115085141 [GRCh37]
Chr13:73818089..114110891 [NCBI36]
Chr13:13q22.1-34		 pathogenic
NM_001122659.3(EDNRB):c.306C>A (p.Tyr102Ter) single nucleotide variant not provided [RCV000657773] Chr13:77918268 [GRCh38]
Chr13:78492403 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.791C>T (p.Ala264Val) single nucleotide variant Waardenburg syndrome type 4A [RCV000660537] Chr13:77903166 [GRCh38]
Chr13:78477301 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.521del (p.Cys174fs) deletion Waardenburg syndrome type 4A [RCV000659494] Chr13:77903570 [GRCh38]
Chr13:78477705 [GRCh37]
Chr13:13q22.3		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41288493-85137552)x3 copy number gain See cases [RCV000133944] Chr13:41288493..85137552 [GRCh38]
Chr13:41862629..85711687 [GRCh37]
Chr13:40760629..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3 copy number gain See cases [RCV000134104] Chr13:19833130..114298614 [GRCh38]
Chr13:20407270..115064089 [GRCh37]
Chr13:19305270..114082191 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q21.32-31.2(chr13:66320998-87855429)x1 copy number loss See cases [RCV000134874] Chr13:66320998..87855429 [GRCh38]
Chr13:66895130..88507684 [GRCh37]
Chr13:65793131..87305685 [NCBI36]
Chr13:13q21.32-31.2		 pathogenic
GRCh38/hg38 13q21.2-31.1(chr13:60536344-84553188)x1 copy number loss See cases [RCV000134951] Chr13:60536344..84553188 [GRCh38]
Chr13:61110478..85127323 [GRCh37]
Chr13:60008479..84025324 [NCBI36]
Chr13:13q21.2-31.1		 pathogenic
GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1 copy number loss See cases [RCV000135610] Chr13:18445862..114327173 [GRCh38]
Chr13:19020001..115085141 [GRCh37]
Chr13:10098739..114110750 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q14.11-31.1(chr13:41143820-85137552)x1 copy number loss See cases [RCV000136526] Chr13:41143820..85137552 [GRCh38]
Chr13:41717956..85711687 [GRCh37]
Chr13:40615956..84609688 [NCBI36]
Chr13:13q14.11-31.1		 pathogenic
GRCh38/hg38 13q22.3-31.3(chr13:77061780-92460406)x1 copy number loss See cases [RCV000136886] Chr13:77061780..92460406 [GRCh38]
Chr13:77635915..93112659 [GRCh37]
Chr13:76533916..91910660 [NCBI36]
Chr13:13q22.3-31.3		 pathogenic
GRCh38/hg38 13q14.2-31.1(chr13:47117587-84300935)x1 copy number loss See cases [RCV000136647] Chr13:47117587..84300935 [GRCh38]
Chr13:47691722..84875070 [GRCh37]
Chr13:46589723..83773071 [NCBI36]
Chr13:13q14.2-31.1		 pathogenic
GRCh38/hg38 13q14.11-34(chr13:40942298-114340331)x1 copy number loss See cases [RCV000137893] Chr13:40942298..114340331 [GRCh38]
Chr13:41516434..115085141 [GRCh37]
Chr13:40414434..114123908 [NCBI36]
Chr13:13q14.11-34		 pathogenic
GRCh38/hg38 13q21.33-31.1(chr13:72681540-79638468)x1 copy number loss See cases [RCV000138575] Chr13:72681540..79638468 [GRCh38]
Chr13:73255678..80212603 [GRCh37]
Chr13:72153679..79110604 [NCBI36]
Chr13:13q21.33-31.1		 pathogenic
GRCh38/hg38 13q13.1-31.1(chr13:32531486-86757044)x3 copy number gain See cases [RCV000138339] Chr13:32531486..86757044 [GRCh38]
Chr13:33105623..87409299 [GRCh37]
Chr13:32003623..86207300 [NCBI36]
Chr13:13q13.1-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3 copy number gain See cases [RCV000139078] Chr13:19833130..114327106 [GRCh38]
Chr13:20407270..115085141 [GRCh37]
Chr13:19305270..114110683 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3 copy number gain See cases [RCV000140004] Chr13:18456040..114340285 [GRCh38]
Chr13:19030180..115105760 [GRCh37]
Chr13:17928180..114123862 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q22.2-31.1(chr13:76530209-78531570)x1 copy number loss See cases [RCV000141902] Chr13:76530209..78531570 [GRCh38]
Chr13:77104344..79105705 [GRCh37]
Chr13:76002345..78003706 [NCBI36]
Chr13:13q22.2-31.1		 pathogenic|uncertain significance
GRCh38/hg38 13q21.31-31.1(chr13:63713365-79638415)x1 copy number loss See cases [RCV000141460] Chr13:63713365..79638415 [GRCh38]
Chr13:64287498..80212550 [GRCh37]
Chr13:63185499..79110551 [NCBI36]
Chr13:13q21.31-31.1		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3 copy number gain See cases [RCV000142924] Chr13:19671934..114340331 [GRCh38]
Chr13:20246074..115085141 [GRCh37]
Chr13:19144074..114123908 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh38/hg38 13q22.3-31.1(chr13:77437522-78501976)x3 copy number gain See cases [RCV000143679] Chr13:77437522..78501976 [GRCh38]
Chr13:78011657..79076111 [GRCh37]
Chr13:76909658..77974112 [NCBI36]
Chr13:13q22.3-31.1		 uncertain significance
GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3 copy number gain See cases [RCV000143462] Chr13:18862146..114342258 [GRCh38]
Chr13:19436286..115107733 [GRCh37]
Chr13:18334286..114125835 [NCBI36]
Chr13:13q11-34		 pathogenic
GRCh38/hg38 13q12.3-31.3(chr13:31363472-90575292)x3 copy number gain See cases [RCV000148244] Chr13:31363472..90575292 [GRCh38]
Chr13:31937609..91227546 [GRCh37]
Chr13:30835609..90025547 [NCBI36]
Chr13:13q12.3-31.3		 pathogenic
GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3 copy number gain See cases [RCV000148126] Chr13:19837395..114327173 [GRCh38]
Chr13:20411535..115085141 [GRCh37]
Chr13:19309535..114110750 [NCBI36]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q21.33-31.2(chr13:72013791-88021559)x1 copy number loss See cases [RCV000240205] Chr13:72013791..88021559 [GRCh37]
Chr13:13q21.33-31.2		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3 copy number gain See cases [RCV000240150] Chr13:19571503..115092569 [GRCh37]
Chr13:13q12.11-34		 pathogenic
NM_001122659.3(EDNRB):c.1284C>A (p.His428Gln) single nucleotide variant not specified [RCV001195188] Chr13:77898245 [GRCh38]
Chr13:78472380 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.403G>A (p.Gly135Ser) single nucleotide variant Waardenburg syndrome type 4A [RCV000721945] Chr13:77918171 [GRCh38]
Chr13:78492306 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1767C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000267567]|not provided [RCV000991939]|not specified [RCV000217389] Chr13:77896433 [GRCh38]
Chr13:78470568 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_001122659.3(EDNRB):c.561C>T (p.Ile187=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000289796]|not provided [RCV000969641]|not specified [RCV000213751] Chr13:77903530 [GRCh38]
Chr13:78477665 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity
NM_001122659.3(EDNRB):c.1285G>A (p.Gly429Arg) single nucleotide variant ABCD syndrome [RCV002478768]|Hirschsprung Disease, Recessive [RCV000310434]|Waardenburg syndrome [RCV000402655]|not provided [RCV001853450]|not specified [RCV000220584] Chr13:77898244 [GRCh38]
Chr13:78472379 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.552T>C (p.Ser184=) single nucleotide variant ABCD syndrome [RCV001658011]|ABCD syndrome [RCV002503839]|Waardenburg syndrome type 4A [RCV001658010]|not provided [RCV001522920]|not specified [RCV000220746] Chr13:77903539 [GRCh38]
Chr13:78477674 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.-26G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000490514]|Waardenburg syndrome type 4A [RCV000989153]|not provided [RCV001705184]|not specified [RCV000216068] Chr13:77918599 [GRCh38]
Chr13:78492734 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122659.3(EDNRB):c.49C>T (p.Leu17Phe) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000297140]|not provided [RCV000897477]|not specified [RCV000221012] Chr13:77918525 [GRCh38]
Chr13:78492660 [GRCh37]
Chr13:13q22.3		 benign|likely benign|uncertain significance
NM_001122659.3(EDNRB):c.618G>A (p.Trp206Ter) single nucleotide variant Rare genetic deafness [RCV000221133] Chr13:77903339 [GRCh38]
Chr13:78477474 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.*1632C>A single nucleotide variant not specified [RCV000218841] Chr13:77896568 [GRCh38]
Chr13:78470703 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.-47T>C single nucleotide variant not specified [RCV000221291] Chr13:77918620 [GRCh38]
Chr13:78492755 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-51-985A>T single nucleotide variant not specified [RCV000222859] Chr13:77919609 [GRCh38]
Chr13:78493744 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-51-953G>T single nucleotide variant not provided [RCV001557501]|not specified [RCV000223285] Chr13:77919577 [GRCh38]
Chr13:78493712 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_001122659.3(EDNRB):c.831A>G (p.Leu277=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000321151]|not provided [RCV001522919]|not specified [RCV000219248] Chr13:77901178 [GRCh38]
Chr13:78475313 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.550T>C (p.Ser184Pro) single nucleotide variant Waardenburg syndrome type 4A [RCV000659495] Chr13:77903541 [GRCh38]
Chr13:78477676 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.1239C>G (p.Ser413=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000348921]|not provided [RCV000894771]|not specified [RCV000251445] Chr13:77898290 [GRCh38]
Chr13:78472425 [GRCh37]
Chr13:13q22.3		 benign|likely benign|conflicting interpretations of pathogenicity|uncertain significance
NM_001122659.3(EDNRB):c.731C>T (p.Thr244Met) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000381908]|not provided [RCV000962313]|not specified [RCV000245461] Chr13:77903226 [GRCh38]
Chr13:78477361 [GRCh37]
Chr13:13q22.3		 benign|likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*2309T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000376251] Chr13:77895891 [GRCh38]
Chr13:78470026 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*585G>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000376317] Chr13:77897615 [GRCh38]
Chr13:78471750 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.777C>T (p.Pro259=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000267346]|not provided [RCV002056390] Chr13:77903180 [GRCh38]
Chr13:78477315 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*1412C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000305590] Chr13:77896788 [GRCh38]
Chr13:78470923 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*1662T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000271249] Chr13:77896538 [GRCh38]
Chr13:78470673 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*179G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000345726] Chr13:77898021 [GRCh38]
Chr13:78472156 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1131T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000273685] Chr13:77897069 [GRCh38]
Chr13:78471204 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2219A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000346909] Chr13:77895981 [GRCh38]
Chr13:78470116 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2167C>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000292772] Chr13:77896033 [GRCh38]
Chr13:78470168 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*1514G>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000293541] Chr13:77896686 [GRCh38]
Chr13:78470821 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1139G>C (p.Cys380Ser) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000260247]|not provided [RCV001859873] Chr13:77899914 [GRCh38]
Chr13:78474049 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*918_*921del deletion Hirschsprung Disease, Recessive [RCV000276986]|Waardenburg syndrome [RCV000369503] Chr13:77897279..77897282 [GRCh38]
Chr13:78471414..78471417 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*903G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000315666] Chr13:77897297 [GRCh38]
Chr13:78471432 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.*1513G>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000389106] Chr13:77896687 [GRCh38]
Chr13:78470822 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2055A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000396818] Chr13:77896145 [GRCh38]
Chr13:78470280 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*1474G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000339549] Chr13:77896726 [GRCh38]
Chr13:78470861 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2258G>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000324670] Chr13:77895942 [GRCh38]
Chr13:78470077 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.318T>C (p.Val106=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000385497] Chr13:77918256 [GRCh38]
Chr13:78492391 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2355T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000261836] Chr13:77895845 [GRCh38]
Chr13:78469980 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2165C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000349983] Chr13:77896035 [GRCh38]
Chr13:78470170 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1546A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000385432]|not provided [RCV001642969] Chr13:77896654 [GRCh38]
Chr13:78470789 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_001122659.3(EDNRB):c.*1496G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000335821] Chr13:77896704 [GRCh38]
Chr13:78470839 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*2064T>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000315555] Chr13:77896136 [GRCh38]
Chr13:78470271 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1310C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000396534] Chr13:77896890 [GRCh38]
Chr13:78471025 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.*859C>T single nucleotide variant Hirschsprung Disease, Recessive [RCV000319297]|Waardenburg syndrome [RCV000280415] Chr13:77897341 [GRCh38]
Chr13:78471476 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*296A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000391036]|not provided [RCV001575447] Chr13:77897904 [GRCh38]
Chr13:78472039 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.777del (p.Val260fs) deletion Waardenburg syndrome type 4A [RCV001375041] Chr13:77903180 [GRCh38]
Chr13:78477315 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.878dup (p.Tyr293Ter) duplication Hearing impairment [RCV001375059]|not provided [RCV000487897] Chr13:77901130..77901131 [GRCh38]
Chr13:78475265..78475266 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.306C>T (p.Tyr102=) single nucleotide variant not provided [RCV000488293] Chr13:77918268 [GRCh38]
Chr13:78492403 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3 copy number gain See cases [RCV001353184] Chr13:19053605..115108528 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001122659.3(EDNRB):c.*1860T>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000303715] Chr13:77896340 [GRCh38]
Chr13:78470475 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2426A>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000296864] Chr13:77895774 [GRCh38]
Chr13:78469909 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1260G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000365890] Chr13:77896940 [GRCh38]
Chr13:78471075 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1906G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000357276] Chr13:77896294 [GRCh38]
Chr13:78470429 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1194+15C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV000371340]|not specified [RCV000605496] Chr13:77899844 [GRCh38]
Chr13:78473979 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.203C>T (p.Pro68Leu) single nucleotide variant not specified [RCV000606747] Chr13:77918371 [GRCh38]
Chr13:78492506 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q22.1-31.3(chr13:74459395-93481294)x1 copy number loss See cases [RCV000598789] Chr13:74459395..93481294 [GRCh37]
Chr13:13q22.1-31.3		 pathogenic
NM_001122659.3(EDNRB):c.758G>A (p.Arg253Gln) single nucleotide variant not specified [RCV000603036] Chr13:77903199 [GRCh38]
Chr13:78477334 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.553G>A (p.Val185Met) single nucleotide variant Aganglionosis, total intestinal [RCV000758016]|Hearing loss, autosomal recessive [RCV001291323]|Hirschsprung disease, susceptibility to, 2 [RCV001112191]|Waardenburg syndrome type 4A [RCV001809794]|not provided [RCV002464308] Chr13:77903538 [GRCh38]
Chr13:78477673 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
GRCh37/hg19 13q14.3-33.3(chr13:53551300-109850651)x1 copy number loss See cases [RCV000449272] Chr13:53551300..109850651 [GRCh37]
Chr13:13q14.3-33.3		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733)x3 copy number gain See cases [RCV000449118] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q12.11-34(chr13:19571503-115092510) copy number gain See cases [RCV000449142] Chr13:19571503..115092510 [GRCh37]
Chr13:13q12.11-34		 pathogenic
GRCh37/hg19 13q22.3-31.1(chr13:77455170-81099829)x1 copy number loss See cases [RCV000447604] Chr13:77455170..81099829 [GRCh37]
Chr13:13q22.3-31.1		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698)x1 copy number loss See cases [RCV000446747] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
GRCh37/hg19 13q21.1-34(chr13:56431743-115107733) copy number gain See cases [RCV000510722] Chr13:56431743..115107733 [GRCh37]
Chr13:13q21.1-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain See cases [RCV000445886] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:72174742-82221361)x1 copy number loss See cases [RCV000448053] Chr13:72174742..82221361 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092)x1 copy number loss See cases [RCV000448229] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733) copy number gain See cases [RCV000510405] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.33-34(chr13:71871468-115107733)x4 copy number gain See cases [RCV000510281] Chr13:71871468..115107733 [GRCh37]
Chr13:13q21.33-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3 copy number gain See cases [RCV000511880] Chr13:19436287..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001122659.3(EDNRB):c.1278T>C (p.Asn426=) single nucleotide variant not specified [RCV000600270] Chr13:77898251 [GRCh38]
Chr13:78472386 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-51-981G>C single nucleotide variant not specified [RCV000601366] Chr13:77919605 [GRCh38]
Chr13:78493740 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.60C>T (p.Gly20=) single nucleotide variant not specified [RCV000613140] Chr13:77918514 [GRCh38]
Chr13:78492649 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.552= (p.Ser184=) single nucleotide variant not provided [RCV000964644]|not specified [RCV000608319] Chr13:77903539 [GRCh38]
Chr13:78477674 [GRCh37]
Chr13:13q22.3		 benign|likely benign
NM_001122659.3(EDNRB):c.211_223del (p.Val71fs) deletion not provided [RCV000627620] Chr13:77918351..77918363 [GRCh38]
Chr13:78492486..78492498 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_000115.5(EDNRB):c.-51-828T>G single nucleotide variant not specified [RCV000613911] Chr13:77919452 [GRCh38]
Chr13:78493587 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.732G>A (p.Thr244=) single nucleotide variant not provided [RCV001574351]|not specified [RCV000611249] Chr13:77903225 [GRCh38]
Chr13:78477360 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.778G>A (p.Val260Ile) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001111746]|not provided [RCV000839975]|not specified [RCV000614742] Chr13:77903179 [GRCh38]
Chr13:78477314 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.802-1G>A single nucleotide variant not provided [RCV000578556] Chr13:77901208 [GRCh38]
Chr13:78475343 [GRCh37]
Chr13:13q22.3		 likely pathogenic
GRCh37/hg19 13q14.3-32.1(chr13:53932358-96586363)x3 copy number gain See cases [RCV000512571] Chr13:53932358..96586363 [GRCh37]
Chr13:13q14.3-32.1		 pathogenic
NM_001122659.3(EDNRB):c.879dup (p.Thr294fs) duplication not provided [RCV000513371] Chr13:77901129..77901130 [GRCh38]
Chr13:78475264..78475265 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.186G>A (p.Leu62=) single nucleotide variant not specified [RCV000606660] Chr13:77918388 [GRCh38]
Chr13:78492523 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.973G>A (p.Val325Ile) single nucleotide variant Waardenburg syndrome type 4A [RCV000659498] Chr13:77900633 [GRCh38]
Chr13:78474768 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) single nucleotide variant Waardenburg syndrome type 4A [RCV000721946] Chr13:77918517 [GRCh38]
Chr13:78492652 [GRCh37]
Chr13:13q22.3		 pathogenic|likely pathogenic
GRCh37/hg19 13q22.2-31.3(chr13:76942604-90660121)x1 copy number loss not provided [RCV000683568] Chr13:76942604..90660121 [GRCh37]
Chr13:13q22.2-31.3		 pathogenic
GRCh37/hg19 13q22.3(chr13:78444734-78770704)x1 copy number loss not provided [RCV000683516] Chr13:78444734..78770704 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.778G>T (p.Val260Phe) single nucleotide variant ABCD syndrome [RCV000709963]|not provided [RCV000991940] Chr13:77903179 [GRCh38]
Chr13:78477314 [GRCh37]
Chr13:13q22.3		 benign|likely benign|not provided
NC_000013.11:g.46968080_87381985del40413906 deletion Chromosome 13q14 deletion syndrome [RCV000721955] Chr13:46968080..87381985 [GRCh38]
Chr13:13q14.2-31.2		 pathogenic
NM_001122659.3(EDNRB):c.483+66G>A single nucleotide variant not provided [RCV001582295] Chr13:77918025 [GRCh38]
Chr13:78492160 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1013C>T (p.Pro338Leu) single nucleotide variant Aganglionosis, total intestinal [RCV000758015] Chr13:77900593 [GRCh38]
Chr13:78474728 [GRCh37]
Chr13:13q22.3		 likely pathogenic
GRCh37/hg19 13q11-34(chr13:19058717-115103529)x3 copy number gain not provided [RCV000738115] Chr13:19058717..115103529 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19031237-115107157)x3 copy number gain not provided [RCV000750643] Chr13:19031237..115107157 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q21.1-31.3(chr13:57058434-94684615)x1 copy number loss not provided [RCV000750731] Chr13:57058434..94684615 [GRCh37]
Chr13:13q21.1-31.3		 pathogenic
NM_000115.5(EDNRB):c.-51-272G>C single nucleotide variant not provided [RCV001690889] Chr13:77918896 [GRCh38]
Chr13:78493031 [GRCh37]
Chr13:13q22.3		 benign
NM_000115.5(EDNRB):c.-51-455A>G single nucleotide variant not provided [RCV001564394] Chr13:77919079 [GRCh38]
Chr13:78493214 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.484-51G>A single nucleotide variant not provided [RCV001545851] Chr13:77903658 [GRCh38]
Chr13:78477793 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-51-1215G>C single nucleotide variant not provided [RCV001581391] Chr13:77919839 [GRCh38]
Chr13:78493974 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-52G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115170] Chr13:77975347 [GRCh38]
Chr13:78549482 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1257G>A (p.Ser419=) single nucleotide variant not provided [RCV000900345] Chr13:77898272 [GRCh38]
Chr13:78472407 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.876T>C (p.Phe292=) single nucleotide variant not provided [RCV000928117] Chr13:77901133 [GRCh38]
Chr13:78475268 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.801+9C>A single nucleotide variant not provided [RCV000929361] Chr13:77903147 [GRCh38]
Chr13:78477282 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.*63G>A single nucleotide variant Aganglionic megacolon [RCV000984786] Chr13:77898137 [GRCh38]
Chr13:78472272 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.830T>G (p.Leu277Arg) single nucleotide variant Aganglionic megacolon [RCV001090044] Chr13:77901179 [GRCh38]
Chr13:78475314 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.532C>A (p.Pro178Thr) single nucleotide variant not specified [RCV000825920] Chr13:77903559 [GRCh38]
Chr13:78477694 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.326del (p.Cys109fs) deletion EDNRB-Related Disorders [RCV000778401] Chr13:77918248 [GRCh38]
Chr13:78492383 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.69G>C (p.Arg23=) single nucleotide variant not provided [RCV000929462] Chr13:77918505 [GRCh38]
Chr13:78492640 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.226A>C (p.Arg76=) single nucleotide variant not provided [RCV000933255] Chr13:77918348 [GRCh38]
Chr13:78492483 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.714A>T (p.Ile238=) single nucleotide variant not provided [RCV000916489] Chr13:77903243 [GRCh38]
Chr13:78477378 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.*1302G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115067] Chr13:77896898 [GRCh38]
Chr13:78471033 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1151T>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115068] Chr13:77897049 [GRCh38]
Chr13:78471184 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-153C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115173] Chr13:77975448 [GRCh38]
Chr13:78549583 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.158del (p.Leu53fs) deletion not provided [RCV001092079] Chr13:77918416 [GRCh38]
Chr13:78492551 [GRCh37]
Chr13:13q22.3		 likely pathogenic
GRCh37/hg19 13q22.3-31.1(chr13:78263582-79031145)x3 copy number gain not provided [RCV000846481] Chr13:78263582..79031145 [GRCh37]
Chr13:13q22.3-31.1		 uncertain significance
GRCh37/hg19 13q21.2-34(chr13:61775567-115107733)x3 copy number gain not provided [RCV000848025] Chr13:61775567..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
NM_001122659.3(EDNRB):c.391T>C (p.Cys131Arg) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001112193]|not provided [RCV002281160] Chr13:77918183 [GRCh38]
Chr13:78492318 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV000849129] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
NM_001122659.3(EDNRB):c.*2665T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001114959] Chr13:77895535 [GRCh38]
Chr13:78469670 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-64C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115171] Chr13:77975359 [GRCh38]
Chr13:78549494 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-121G>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115172] Chr13:77975416 [GRCh38]
Chr13:78549551 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.748A>G (p.Ser250Gly) single nucleotide variant not specified [RCV001195231] Chr13:77903209 [GRCh38]
Chr13:78477344 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*414G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109430] Chr13:77897786 [GRCh38]
Chr13:78471921 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1300C>T (p.Arg434Cys) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109431] Chr13:77898229 [GRCh38]
Chr13:78472364 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1256C>T (p.Ser419Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109432]|not provided [RCV001862874] Chr13:77898273 [GRCh38]
Chr13:78472408 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-161C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109542] Chr13:77975456 [GRCh38]
Chr13:78549591 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-205G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109544] Chr13:77975500 [GRCh38]
Chr13:78549635 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-206C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109545] Chr13:77975501 [GRCh38]
Chr13:78549636 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-225T>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109546] Chr13:77975520 [GRCh38]
Chr13:78549655 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-228C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109547] Chr13:77975523 [GRCh38]
Chr13:78549658 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2047C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001111645] Chr13:77896153 [GRCh38]
Chr13:78470288 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.-148A>G single nucleotide variant not provided [RCV001641954] Chr13:77918721 [GRCh38]
Chr13:78492856 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.1195-196C>A single nucleotide variant not provided [RCV001576107] Chr13:77898530 [GRCh38]
Chr13:78472665 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1086-167G>A single nucleotide variant not provided [RCV001636383] Chr13:77900134 [GRCh38]
Chr13:78474269 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.*3G>A single nucleotide variant not provided [RCV001593655] Chr13:77898197 [GRCh38]
Chr13:78472332 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1212G>A (p.Trp404Ter) single nucleotide variant ABCD syndrome [RCV002488433]|not provided [RCV001592180] Chr13:77898317 [GRCh38]
Chr13:78472452 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1085+188T>G single nucleotide variant not provided [RCV001656142] Chr13:77900333 [GRCh38]
Chr13:78474468 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.227G>T (p.Arg76Met) single nucleotide variant not provided [RCV001568259] Chr13:77918347 [GRCh38]
Chr13:78492482 [GRCh37]
Chr13:13q22.3		 conflicting interpretations of pathogenicity|uncertain significance
NM_001122659.3(EDNRB):c.*1481G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001112117] Chr13:77896719 [GRCh38]
Chr13:78470854 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2580C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001114960] Chr13:77895620 [GRCh38]
Chr13:78469755 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2452G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001114962] Chr13:77895748 [GRCh38]
Chr13:78469883 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.360C>T (p.Ser120=) single nucleotide variant not provided [RCV000913501] Chr13:77918214 [GRCh38]
Chr13:78492349 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1194+26G>A single nucleotide variant not provided [RCV001561800] Chr13:77899833 [GRCh38]
Chr13:78473968 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.802-122T>C single nucleotide variant not provided [RCV001621852] Chr13:77901329 [GRCh38]
Chr13:78475464 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.802-139A>G single nucleotide variant not provided [RCV001560106] Chr13:77901346 [GRCh38]
Chr13:78475481 [GRCh37]
Chr13:13q22.3		 likely benign
NM_000115.5(EDNRB):c.-51-832del deletion not provided [RCV000995071] Chr13:77919456 [GRCh38]
Chr13:78493591 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q14.3-31.3(chr13:51512603-91631111)x1 copy number loss not provided [RCV001006564] Chr13:51512603..91631111 [GRCh37]
Chr13:13q14.3-31.3		 pathogenic
GRCh37/hg19 13q21.33-31.1(chr13:71502357-86571730)x1 copy number loss not provided [RCV001006577] Chr13:71502357..86571730 [GRCh37]
Chr13:13q21.33-31.1		 pathogenic
NM_001122659.3(EDNRB):c.484-155A>G single nucleotide variant not provided [RCV001595438] Chr13:77903762 [GRCh38]
Chr13:78477897 [GRCh37]
Chr13:13q22.3		 benign
NM_000115.5(EDNRB):c.-51-1102del deletion not provided [RCV001598537] Chr13:77919726 [GRCh38]
Chr13:78493861 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1085+166G>C single nucleotide variant not provided [RCV001598971] Chr13:77900355 [GRCh38]
Chr13:78474490 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.*2041T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001111646] Chr13:77896159 [GRCh38]
Chr13:78470294 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1844A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001111647] Chr13:77896356 [GRCh38]
Chr13:78470491 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*1784A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001111648] Chr13:77896416 [GRCh38]
Chr13:78470551 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2292A>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109325] Chr13:77895908 [GRCh38]
Chr13:78470043 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*781G>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109428] Chr13:77897419 [GRCh38]
Chr13:78471554 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-160G>A single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109541] Chr13:77975455 [GRCh38]
Chr13:78549590 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_000115.5(EDNRB):c.-179C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109543] Chr13:77975474 [GRCh38]
Chr13:78549609 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q14.3-34(chr13:53262013-115107733)x1 copy number loss not provided [RCV001006567] Chr13:53262013..115107733 [GRCh37]
Chr13:13q14.3-34		 pathogenic
NM_001122659.3(EDNRB):c.*1600T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001112116] Chr13:77896600 [GRCh38]
Chr13:78470735 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1228G>C (p.Glu410Gln) single nucleotide variant Aganglionic megacolon [RCV001090043] Chr13:77898301 [GRCh38]
Chr13:78472436 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.602G>C (p.Arg201Pro) single nucleotide variant not provided [RCV001092077] Chr13:77903355 [GRCh38]
Chr13:78477490 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.483+15C>T single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001112192]|not provided [RCV002069812] Chr13:77918076 [GRCh38]
Chr13:78492211 [GRCh37]
Chr13:13q22.3		 likely benign|uncertain significance
NM_001122659.3(EDNRB):c.191G>T (p.Arg64Leu) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001112194] Chr13:77918383 [GRCh38]
Chr13:78492518 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*2463T>C single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001114961] Chr13:77895737 [GRCh38]
Chr13:78469872 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.99T>C (p.Pro33=) single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001115169] Chr13:77918475 [GRCh38]
Chr13:78492610 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.*575A>G single nucleotide variant Hirschsprung disease, susceptibility to, 2 [RCV001109429] Chr13:77897625 [GRCh38]
Chr13:78471760 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001201397.1(EDNRB):c.18T>A (p.Cys6Ter) single nucleotide variant Waardenburg syndrome [RCV001375168]|Waardenburg syndrome type 4A [RCV002466671] Chr13:77919598 [GRCh38]
Chr13:78493733 [GRCh37]
Chr13:13q22.3		 likely pathogenic|uncertain significance
NM_001122659.3(EDNRB):c.1103A>T (p.Asp368Val) single nucleotide variant Waardenburg syndrome type 4A [RCV001375042] Chr13:77899950 [GRCh38]
Chr13:78474085 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.924G>T (p.Gln308His) single nucleotide variant Hearing impairment [RCV001375330] Chr13:77901085 [GRCh38]
Chr13:78475220 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.(?_77566087)_(78492734_?)del deletion Neuronal ceroid lipofuscinosis [RCV001387711] Chr13:77566087..78492734 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.483+79G>A single nucleotide variant not provided [RCV001667696] Chr13:77918012 [GRCh38]
Chr13:78492147 [GRCh37]
Chr13:13q22.3		 benign
NM_000115.5(EDNRB):c.-51-460T>G single nucleotide variant not provided [RCV001694598] Chr13:77919084 [GRCh38]
Chr13:78493219 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.483+175A>C single nucleotide variant not provided [RCV001710357] Chr13:77917916 [GRCh38]
Chr13:78492051 [GRCh37]
Chr13:13q22.3		 benign
NM_001122659.3(EDNRB):c.596+1G>A single nucleotide variant not provided [RCV002244438] Chr13:77903494 [GRCh38]
Chr13:78477629 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.928G>A (p.Ala310Thr) single nucleotide variant not specified [RCV002247795] Chr13:77901081 [GRCh38]
Chr13:78475216 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1301G>A (p.Arg434His) single nucleotide variant not provided [RCV002280478] Chr13:77898228 [GRCh38]
Chr13:78472363 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.842A>G (p.Tyr281Cys) single nucleotide variant not provided [RCV001773032] Chr13:77901167 [GRCh38]
Chr13:78475302 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.454G>A (p.Val152Ile) single nucleotide variant not provided [RCV001765354] Chr13:77918120 [GRCh38]
Chr13:78492255 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.956G>T (p.Arg319Leu) single nucleotide variant not provided [RCV001765471] Chr13:77900650 [GRCh38]
Chr13:78474785 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1195T>C (p.Ser399Pro) single nucleotide variant not provided [RCV001772636] Chr13:77898334 [GRCh38]
Chr13:78472469 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.242C>T (p.Pro81Leu) single nucleotide variant not provided [RCV001764120] Chr13:77918332 [GRCh38]
Chr13:78492467 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.482A>G (p.Lys161Arg) single nucleotide variant not provided [RCV001751990] Chr13:77918092 [GRCh38]
Chr13:78492227 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13p13-q34(chr13:1-115169878)x3 copy number gain See cases [RCV001780076] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_001122659.3(EDNRB):c.1009C>T (p.Leu337Phe) single nucleotide variant not provided [RCV001752234] Chr13:77900597 [GRCh38]
Chr13:78474732 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.998C>A (p.Ala333Asp) single nucleotide variant not provided [RCV001752745] Chr13:77900608 [GRCh38]
Chr13:78474743 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.271C>G (p.Gln91Glu) single nucleotide variant not provided [RCV001770725] Chr13:77918303 [GRCh38]
Chr13:78492438 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.853C>T (p.Pro285Ser) single nucleotide variant not provided [RCV001758173] Chr13:77901156 [GRCh38]
Chr13:78475291 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1325C>T (p.Ser442Phe) single nucleotide variant not provided [RCV001760790] Chr13:77898204 [GRCh38]
Chr13:78472339 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1112G>T (p.Gly371Val) single nucleotide variant not provided [RCV001757261] Chr13:77899941 [GRCh38]
Chr13:78474076 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1123G>T (p.Ala375Ser) single nucleotide variant not provided [RCV001755019] Chr13:77899930 [GRCh38]
Chr13:78474065 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.76G>A (p.Gly26Arg) single nucleotide variant not provided [RCV001758372] Chr13:77918498 [GRCh38]
Chr13:78492633 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.801+1G>T single nucleotide variant Waardenburg syndrome type 4A [RCV001808120] Chr13:77903155 [GRCh38]
Chr13:78477290 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.801+2T>C single nucleotide variant Waardenburg syndrome type 4A [RCV001809337] Chr13:77903154 [GRCh38]
Chr13:78477289 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.67C>T (p.Arg23Trp) single nucleotide variant not provided [RCV002025575] Chr13:77918507 [GRCh38]
Chr13:78492642 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1194+1G>C single nucleotide variant not provided [RCV001837089] Chr13:77899858 [GRCh38]
Chr13:78473993 [GRCh37]
Chr13:13q22.3		 pathogenic
NM_001122659.3(EDNRB):c.632G>T (p.Gly211Val) single nucleotide variant not provided [RCV001895052] Chr13:77903325 [GRCh38]
Chr13:78477460 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q14.11-33.3(chr13:42504540-108206269)x3 copy number gain not provided [RCV001829235] Chr13:42504540..108206269 [GRCh37]
Chr13:13q14.11-33.3		 pathogenic
GRCh37/hg19 13q21.2-31.1(chr13:61686543-83302092) copy number loss not specified [RCV002053064] Chr13:61686543..83302092 [GRCh37]
Chr13:13q21.2-31.1		 pathogenic
GRCh37/hg19 13q21.2-34(chr13:61424168-115107733) copy number gain not specified [RCV002053063] Chr13:61424168..115107733 [GRCh37]
Chr13:13q21.2-34		 pathogenic
GRCh37/hg19 13q22.2-31.2(chr13:75574661-87784831) copy number loss not specified [RCV002053070] Chr13:75574661..87784831 [GRCh37]
Chr13:13q22.2-31.2		 pathogenic
GRCh37/hg19 13q21.1-31.2(chr13:59574760-89410027)x1 copy number loss not provided [RCV001834426] Chr13:59574760..89410027 [GRCh37]
Chr13:13q21.1-31.2		 pathogenic
NM_001122659.3(EDNRB):c.430G>A (p.Ala144Thr) single nucleotide variant not provided [RCV001984146] Chr13:77918144 [GRCh38]
Chr13:78492279 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-115107733) copy number gain not specified [RCV002053036] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q14.11-31.3(chr13:42457841-91796698) copy number loss not specified [RCV002053057] Chr13:42457841..91796698 [GRCh37]
Chr13:13q14.11-31.3		 pathogenic
NM_001122659.3(EDNRB):c.253A>G (p.Ile85Val) single nucleotide variant not provided [RCV001890612] Chr13:77918321 [GRCh38]
Chr13:78492456 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19436286-114981726) copy number gain not specified [RCV002053035] Chr13:19436286..114981726 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.3-34(chr13:78514567-115107733) copy number gain not specified [RCV002053071] Chr13:78514567..115107733 [GRCh37]
Chr13:13q22.3-34		 pathogenic
GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3 copy number gain not provided [RCV001834436] Chr13:19436286..115107733 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q13.3-31.1(chr13:36376204-80681753) copy number loss not specified [RCV002053052] Chr13:36376204..80681753 [GRCh37]
Chr13:13q13.3-31.1		 pathogenic
NM_001122659.3(EDNRB):c.1038_1076dup (p.Thr348_Leu360dup) duplication not provided [RCV001893346] Chr13:77900529..77900530 [GRCh38]
Chr13:78474664..78474665 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1265_1283del (p.Lys422fs) deletion Waardenburg syndrome type 4A [RCV002052144] Chr13:77898246..77898264 [GRCh38]
Chr13:78472381..78472399 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.526C>G (p.Leu176Val) single nucleotide variant not provided [RCV001890118] Chr13:77903565 [GRCh38]
Chr13:78477700 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1194+2T>C single nucleotide variant not provided [RCV002010300] Chr13:77899857 [GRCh38]
Chr13:78473992 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1304C>A (p.Ser435Tyr) single nucleotide variant not provided [RCV002038116] Chr13:77898225 [GRCh38]
Chr13:78472360 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.211G>C (p.Val71Leu) single nucleotide variant not provided [RCV001942796] Chr13:77918363 [GRCh38]
Chr13:78492498 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.952-14T>C single nucleotide variant not provided [RCV001977434] Chr13:77900668 [GRCh38]
Chr13:78474803 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.314C>T (p.Thr105Met) single nucleotide variant not provided [RCV002028484] Chr13:77918260 [GRCh38]
Chr13:78492395 [GRCh37]
Chr13:13q22.3		 uncertain significance
NC_000013.10:g.(?_77566087)_(78492734_?)dup duplication not provided [RCV001930270] Chr13:77566087..78492734 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.743A>C (p.Lys248Thr) single nucleotide variant not provided [RCV001866697] Chr13:77903214 [GRCh38]
Chr13:78477349 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.772C>G (p.His258Asp) single nucleotide variant not provided [RCV002027912] Chr13:77903185 [GRCh38]
Chr13:78477320 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.178G>A (p.Ala60Thr) single nucleotide variant not provided [RCV001958120] Chr13:77918396 [GRCh38]
Chr13:78492531 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.1194+5G>C single nucleotide variant not provided [RCV002033740] Chr13:77899854 [GRCh38]
Chr13:78473989 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.559A>C (p.Ile187Leu) single nucleotide variant not provided [RCV001897640] Chr13:77903532 [GRCh38]
Chr13:78477667 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.104G>C (p.Arg35Thr) single nucleotide variant not provided [RCV001937031] Chr13:77918470 [GRCh38]
Chr13:78492605 [GRCh37]
Chr13:13q22.3		 uncertain significance
NM_001122659.3(EDNRB):c.596+2T>C single nucleotide variant not provided [RCV002011742] Chr13:77903493 [GRCh38]
Chr13:78477628 [GRCh37]
Chr13:13q22.3		 likely pathogenic
NM_001122659.3(EDNRB):c.702C>T (p.Val234=) single nucleotide variant not provided [RCV002197236] Chr13:77903255 [GRCh38]
Chr13:78477390 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.783G>A (p.Gln261=) single nucleotide variant not provided [RCV002117131] Chr13:77903174 [GRCh38]
Chr13:78477309 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.1056G>A (p.Gln352=) single nucleotide variant not provided [RCV002093605] Chr13:77900550 [GRCh38]
Chr13:78474685 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.802-4A>G single nucleotide variant not provided [RCV002138698] Chr13:77901211 [GRCh38]
Chr13:78475346 [GRCh37]
Chr13:13q22.3		 likely benign
NM_001122659.3(EDNRB):c.484-17G>A single nucleotide variant not provided [RCV002155971] Chr13:77903624 [GRCh38]
Chr13:78477759 [GRCh37]
Chr13:13q22.3		 likely benign
GRCh37/hg19 13p13-q34(chr13:1-115169878) copy number gain Complete trisomy 13 syndrome [RCV002280659] Chr13:1..115169878 [GRCh37]
Chr13:13p13-q34		 pathogenic
NM_001122659.3(EDNRB):c.343G>A (p.Gly115Arg) single nucleotide variant not provided [RCV002267302] Chr13:77918231 [GRCh38]
Chr13:78492366 [GRCh37]
Chr13:13q22.3		 uncertain significance
GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3 copy number gain not provided [RCV002291540] Chr13:19253848..115108937 [GRCh37]
Chr13:13q11-34		 pathogenic
GRCh37/hg19 13q22.1-34(chr13:75268539-115107733)x3 copy number gain not provided [RCV002472537] Chr13:75268539..115107733 [GRCh37]
Chr13:13q22.1-34		 pathogenic
NM_001122659.3(EDNRB):c.905G>C (p.Arg302Thr) single nucleotide variant not provided [RCV002469733] Chr13:77901104 [GRCh38]
Chr13:78475239 [GRCh37]
Chr13:13q22.3		 uncertain significance
miRNA Target Status

Predicted Target Of
Summary Value
Count of predictions:2524
Count of miRNA genes:776
Interacting mature miRNAs:890
Transcripts:ENST00000334286, ENST00000377211, ENST00000446573, ENST00000475537
Prediction methods: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.

Markers in Region
RH68201  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,492,343 - 78,492,505UniSTSGRCh37
Build 361377,390,344 - 77,390,506RGDNCBI36
Celera1359,390,272 - 59,390,434RGD
Cytogenetic Map13q22UniSTS
HuRef1359,191,080 - 59,191,242UniSTS
GeneMap99-GB4 RH Map13226.75UniSTS
RH68202  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,469,835 - 78,470,002UniSTSGRCh37
Build 361377,367,836 - 77,368,003RGDNCBI36
Celera1359,367,759 - 59,367,926RGD
Cytogenetic Map13q22UniSTS
HuRef1359,168,567 - 59,168,734UniSTS
GeneMap99-GB4 RH Map13226.94UniSTS
RH120654  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,474,098 - 78,474,288UniSTSGRCh37
Build 361377,372,099 - 77,372,289RGDNCBI36
Celera1359,372,021 - 59,372,211RGD
Cytogenetic Map13q22UniSTS
HuRef1359,172,829 - 59,173,019UniSTS
TNG Radiation Hybrid Map1327835.0UniSTS
EDNRB_607  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,469,462 - 78,470,298UniSTSGRCh37
Build 361377,367,463 - 77,368,299RGDNCBI36
Celera1359,367,386 - 59,368,222RGD
HuRef1359,168,194 - 59,169,030UniSTS
D13S1461  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,471,000 - 78,471,330UniSTSGRCh37
Build 361377,369,001 - 77,369,331RGDNCBI36
Celera1359,368,924 - 59,369,254RGD
Cytogenetic Map13q22UniSTS
HuRef1359,169,732 - 59,170,062UniSTS
Stanford-G3 RH Map132109.0UniSTS
Whitehead-YAC Contig Map13 UniSTS
NCBI RH Map13641.5UniSTS
GeneMap99-G3 RH Map132102.0UniSTS
G15922  
Human AssemblyChrPosition (strand)SourceJBrowse
GRCh371378,472,143 - 78,472,285UniSTSGRCh37
Build 361377,370,144 - 77,370,286RGDNCBI36
Celera1359,370,067 - 59,370,209RGD
Cytogenetic Map13q22UniSTS
HuRef1359,170,875 - 59,171,017UniSTS


Expression


RNA-SEQ Expression
High: > 1000 TPM value   Medium: Between 11 and 1000 TPM
Low: Between 0.5 and 10 TPM   Below Cutoff: < 0.5 TPM

alimentary part of gastrointestinal system circulatory system endocrine system exocrine system hemolymphoid system hepatobiliary system integumental system musculoskeletal system nervous system renal system reproductive system respiratory system sensory system visual system adipose tissue appendage entire extraembryonic component pharyngeal arch
High 7 2
Medium 1311 1213 1216 256 323 209 2752 1075 2796 275 598 1300 46 1204 1503 5 1
Low 1024 1384 490 353 781 238 1587 1073 897 104 762 136 123 1 1285 1
Below cutoff 25 384 9 7 593 8 6 16 16 12 45 79

Sequence

Nucleotide Sequences
RefSeq Transcripts NG_011630 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_000115 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001122659 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_001201397 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  NM_003991 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
GenBank Nucleotide AB209198 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AB839041 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114163 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114164 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AF114165 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ458188 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ458189 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ458190 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AJ458191 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AK290699 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AL139002 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY275463 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  AY547312 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BC014472 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BG436360 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  BM557607 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CH471093 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  CP068265 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D13168 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  D90402 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  H28710 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  KF455797 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  L06623 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  M74921 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S44866 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S57283 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75586 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  S75587 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles
  X99250 (Get FASTA)   NCBI Sequence Viewer   Search GEO for Microarray Profiles

Reference Sequences
RefSeq Acc Id: ENST00000377211   ⟹   ENSP00000366416
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,895,481 - 77,919,768 (-)Ensembl
RefSeq Acc Id: ENST00000475537   ⟹   ENSP00000487082
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,897,350 - 77,919,390 (-)Ensembl
RefSeq Acc Id: ENST00000626030   ⟹   ENSP00000486202
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,896,408 - 77,918,799 (-)Ensembl
RefSeq Acc Id: ENST00000643890   ⟹   ENSP00000495815
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,899,502 - 77,919,483 (-)Ensembl
RefSeq Acc Id: ENST00000645696   ⟹   ENSP00000495984
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,898,192 - 77,903,568 (-)Ensembl
RefSeq Acc Id: ENST00000646605   ⟹   ENSP00000494278
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,895,526 - 77,919,397 (-)Ensembl
RefSeq Acc Id: ENST00000646607   ⟹   ENSP00000493527
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,895,487 - 77,918,831 (-)Ensembl
RefSeq Acc Id: ENST00000646948   ⟹   ENSP00000493895
RefSeq Status:
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh38.p13 Ensembl1377,895,481 - 77,975,529 (-)Ensembl
RefSeq Acc Id: NM_000115   ⟹   NP_000106
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,895,487 - 77,975,527 (-)NCBI
GRCh371378,469,616 - 78,549,664 (-)NCBI
Build 361377,367,617 - 77,447,665 (-)NCBI Archive
HuRef1359,168,348 - 59,248,390 (-)NCBI
CHM1_11378,436,966 - 78,516,998 (-)NCBI
T2T-CHM13v2.01377,120,409 - 77,200,427 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001122659   ⟹   NP_001116131
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,895,487 - 77,918,831 (-)NCBI
GRCh371378,469,616 - 78,549,664 (-)NCBI
HuRef1359,168,348 - 59,248,390 (-)NCBI
CHM1_11378,436,966 - 78,460,324 (-)NCBI
T2T-CHM13v2.01377,120,409 - 77,143,758 (-)NCBI
Sequence:
RefSeq Acc Id: NM_001201397   ⟹   NP_001188326
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,895,481 - 77,919,768 (-)NCBI
GRCh371378,469,616 - 78,549,664 (-)NCBI
HuRef1359,168,348 - 59,248,390 (-)NCBI
CHM1_11378,436,966 - 78,461,261 (-)NCBI
T2T-CHM13v2.01377,120,403 - 77,144,695 (-)NCBI
Sequence:
RefSeq Acc Id: NM_003991   ⟹   NP_003982
RefSeq Status: REVIEWED
Type: CODING
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,895,487 - 77,918,831 (-)NCBI
GRCh371378,469,616 - 78,549,664 (-)NCBI
Build 361377,368,544 - 77,390,934 (-)NCBI Archive
HuRef1359,168,348 - 59,248,390 (-)NCBI
CHM1_11378,436,966 - 78,460,324 (-)NCBI
T2T-CHM13v2.01377,120,409 - 77,143,758 (-)NCBI
Sequence:
Protein Sequences
Protein RefSeqs NP_000106 (Get FASTA)   NCBI Sequence Viewer  
  NP_001116131 (Get FASTA)   NCBI Sequence Viewer  
  NP_001188326 (Get FASTA)   NCBI Sequence Viewer  
  NP_003982 (Get FASTA)   NCBI Sequence Viewer  
GenBank Protein AAA52342 (Get FASTA)   NCBI Sequence Viewer  
  AAA58465 (Get FASTA)   NCBI Sequence Viewer  
  AAB19411 (Get FASTA)   NCBI Sequence Viewer  
  AAB25531 (Get FASTA)   NCBI Sequence Viewer  
  AAB33542 (Get FASTA)   NCBI Sequence Viewer  
  AAD14177 (Get FASTA)   NCBI Sequence Viewer  
  AAD24541 (Get FASTA)   NCBI Sequence Viewer  
  AAH14472 (Get FASTA)   NCBI Sequence Viewer  
  AAP32295 (Get FASTA)   NCBI Sequence Viewer  
  AAS38516 (Get FASTA)   NCBI Sequence Viewer  
  BAA14398 (Get FASTA)   NCBI Sequence Viewer  
  BAD92435 (Get FASTA)   NCBI Sequence Viewer  
  BAF83388 (Get FASTA)   NCBI Sequence Viewer  
  CAA67623 (Get FASTA)   NCBI Sequence Viewer  
  CAD30645 (Get FASTA)   NCBI Sequence Viewer  
  CAD30646 (Get FASTA)   NCBI Sequence Viewer  
  CAD30647 (Get FASTA)   NCBI Sequence Viewer  
  CAD30648 (Get FASTA)   NCBI Sequence Viewer  
  EAW80573 (Get FASTA)   NCBI Sequence Viewer  
  EAW80574 (Get FASTA)   NCBI Sequence Viewer  
  EAW80575 (Get FASTA)   NCBI Sequence Viewer  
  EAW80576 (Get FASTA)   NCBI Sequence Viewer  
  EAW80577 (Get FASTA)   NCBI Sequence Viewer  
  EAW80578 (Get FASTA)   NCBI Sequence Viewer  
  P24530 (Get FASTA)   NCBI Sequence Viewer  
Reference Sequences
RefSeq Acc Id: NP_001188326   ⟸   NM_001201397
- Peptide Label: isoform 3
- UniProtKB: P24530 (UniProtKB/Swiss-Prot),   A0A024R638 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_003982   ⟸   NM_003991
- Peptide Label: isoform 2 precursor
- UniProtKB: P24530 (UniProtKB/Swiss-Prot),   A0A024R645 (UniProtKB/TrEMBL)
- Sequence:
RefSeq Acc Id: NP_001116131   ⟸   NM_001122659
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UQK3 (UniProtKB/Swiss-Prot),   P24530 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: NP_000106   ⟸   NM_000115
- Peptide Label: isoform 1 precursor
- UniProtKB: Q9UQK3 (UniProtKB/Swiss-Prot),   P24530 (UniProtKB/Swiss-Prot)
- Sequence:
RefSeq Acc Id: ENSP00000486202   ⟸   ENST00000626030
RefSeq Acc Id: ENSP00000366416   ⟸   ENST00000377211
RefSeq Acc Id: ENSP00000495815   ⟸   ENST00000643890
RefSeq Acc Id: ENSP00000495984   ⟸   ENST00000645696
RefSeq Acc Id: ENSP00000493895   ⟸   ENST00000646948
RefSeq Acc Id: ENSP00000487082   ⟸   ENST00000475537
RefSeq Acc Id: ENSP00000493527   ⟸   ENST00000646607
RefSeq Acc Id: ENSP00000494278   ⟸   ENST00000646605
Protein Domains
G_PROTEIN_RECEP_F1_2

Protein Structures
Name Modeler Protein Id AA Range Protein Structure
AF-P24530-F1-model_v2 AlphaFold P24530 1-442 view protein structure

Promoters
RGD ID:6850198
Promoter ID:EP45003
Type:initiation region
Name:HS_EDNRB
Description:Endothelin-B receptor, EDNRB or ETRB gene.
SO ACC ID:SO:0000170
Source:EPD (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Tissues & Cell Lines:brain > kidney, placenta, other tissues
Experiment Methods:Nuclease protection with homologous sequence ladder; Primer extension with homologous sequence ladder
Position:
Human AssemblyChrPosition (strand)Source
Build 361377,390,964 - 77,391,024EPD
RGD ID:7226623
Promoter ID:EPDNEW_H19056
Type:initiation region
Name:EDNRB_1
Description:endothelin receptor type B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19057  
Experiment Methods:Single-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,918,800 - 77,918,860EPDNEW
RGD ID:7226621
Promoter ID:EPDNEW_H19057
Type:initiation region
Name:EDNRB_2
Description:endothelin receptor type B
SO ACC ID:SO:0000170
Source:EPDNEW (Eukaryotic Promoter Database, http://epd.vital-it.ch/)
Alternative Promoters:null; see alsoEPDNEW_H19056  
Experiment Methods:Single-end sequencing.; Paired-end sequencing.
Position:
Human AssemblyChrPosition (strand)Source
GRCh381377,975,527 - 77,975,587EPDNEW

Additional Information

Database Acc Id Source(s)
AGR Gene HGNC:3180 AgrOrtholog
COSMIC EDNRB COSMIC
Ensembl Genes ENSG00000136160 Ensembl, ENTREZGENE, UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
Ensembl Protein ENSP00000366416 ENTREZGENE
  ENSP00000366416.4 UniProtKB/Swiss-Prot
  ENSP00000486202 ENTREZGENE
  ENSP00000486202.1 UniProtKB/Swiss-Prot
  ENSP00000487082.2 UniProtKB/Swiss-Prot
  ENSP00000493527 ENTREZGENE
  ENSP00000493527.1 UniProtKB/Swiss-Prot
  ENSP00000493895 ENTREZGENE
  ENSP00000493895.1 UniProtKB/Swiss-Prot
  ENSP00000494278.1 UniProtKB/Swiss-Prot
  ENSP00000495815.1 UniProtKB/TrEMBL
  ENSP00000495984.1 UniProtKB/TrEMBL
Ensembl Transcript ENST00000377211 ENTREZGENE
  ENST00000377211.8 UniProtKB/Swiss-Prot
  ENST00000475537.2 UniProtKB/Swiss-Prot
  ENST00000626030 ENTREZGENE
  ENST00000626030.1 UniProtKB/Swiss-Prot
  ENST00000643890.1 UniProtKB/TrEMBL
  ENST00000645696.1 UniProtKB/TrEMBL
  ENST00000646605.1 UniProtKB/Swiss-Prot
  ENST00000646607 ENTREZGENE
  ENST00000646607.2 UniProtKB/Swiss-Prot
  ENST00000646948 ENTREZGENE
  ENST00000646948.1 UniProtKB/Swiss-Prot
GTEx ENSG00000136160 GTEx
HGNC ID HGNC:3180 ENTREZGENE
Human Proteome Map EDNRB Human Proteome Map
InterPro Endthln_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ETB_rcpt UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCR_Rhodpsn_7TM UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
KEGG Report hsa:1910 UniProtKB/Swiss-Prot
NCBI Gene 1910 ENTREZGENE
OMIM 131244 OMIM
  277580 OMIM
  600155 OMIM
  600501 OMIM
Pfam 7tm_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PharmGKB EDNRB RGD, PharmGKB
PRINTS ENDOTHELINBR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  ENDOTHELINR UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  GPCRRHODOPSN UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
PROSITE G_PROTEIN_RECEP_F1_1 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
  G_PROTEIN_RECEP_F1_2 UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
SMART 7TM_GPCR_Srsx UniProtKB/Swiss-Prot, UniProtKB/TrEMBL
UniProt A0A024R638 ENTREZGENE, UniProtKB/TrEMBL
  A0A024R645 ENTREZGENE, UniProtKB/TrEMBL
  A0A2R8Y748_HUMAN UniProtKB/TrEMBL
  A0A2R8YGF7_HUMAN UniProtKB/TrEMBL
  EDNRB_HUMAN UniProtKB/Swiss-Prot, ENTREZGENE
  Q9UQK3 ENTREZGENE
UniProt Secondary A2A2Z8 UniProtKB/Swiss-Prot
  A8K3T4 UniProtKB/Swiss-Prot
  O15343 UniProtKB/Swiss-Prot
  Q59GB1 UniProtKB/Swiss-Prot
  Q5W0G9 UniProtKB/Swiss-Prot
  Q8NHM6 UniProtKB/Swiss-Prot
  Q8NHM7 UniProtKB/Swiss-Prot
  Q8NHM8 UniProtKB/Swiss-Prot
  Q8NHM9 UniProtKB/Swiss-Prot
  Q9UD23 UniProtKB/Swiss-Prot
  Q9UQK3 UniProtKB/Swiss-Prot


Nomenclature History
Date Current Symbol Current Name Previous Symbol Previous Name Description Reference Status
2016-05-09 EDNRB  endothelin receptor type B  LINC00439  long intergenic non-protein coding RNA 439  Data Merged 737654 PROVISIONAL
2011-08-16 EDNRB  endothelin receptor type B  EDNRB  endothelin receptor type B  Symbol and/or name change 5135510 APPROVED
2011-07-27 EDNRB  endothelin receptor type B  EDNRB  endothelin receptor type B  Symbol and/or name change 5135510 APPROVED