NR0B1

nuclear receptor subfamily 0 group B member 1

Summary

This gene encodes a protein that contains a DNA-binding domain. The encoded protein acts as a dominant-negative regulator of transcription which is mediated by the retinoic acid receptor. This protein also functions as an anti-testis gene by acting antagonistically to Sry. Mutations in this gene result in both X-linked congenital adrenal hypoplasia and hypogonadotropic hypogonadism. [provided by RefSeq, Jul 2008]

Known Variants267 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1926485824X:30,322,698A/G—likely pathogenic
rs151317312X:30,322,699T/C—likely benign
rs2519049261X:30,322,711G/C—likely benign
rs572970359X:30,322,744T/C—likely benign
rs768052155X:30,322,750G/A—benign
rs1569267996X:30,322,755T/A—uncertain significance
rs2519049296X:30,322,758G/C—uncertain significance
rs753067688X:30,322,763A/G—uncertain significance
rs1555972641X:30,322,769A/G—pathogenic
rs1441859110X:30,322,786G/C—likely benign
rs28935481X:30,322,790T/Cmissense variantuncertain significance
rs104894897X:30,322,793A/Cmissense variantpathogenic
rs2147004349X:30,322,801C/T—likely benign
rs2519049355X:30,322,810A/G—likely benign
rs746827941X:30,322,828G/A—likely benign
rs768592561X:30,322,830T/C—likely benign
rs387907373X:30,322,835C/Amissense variantpathogenic
rs2519049376X:30,322,836T/C—pathogenic
rs1926489705X:30,322,852G/A—likely benign
rs776527316X:30,322,855C/T—likely benign
rs2519049405X:30,322,861C/T—likely benign
rs145911517X:30,322,864G/C—likely benign
rs759655123X:30,322,874C/T—uncertain significance
rs753227889X:30,322,890T/C—conflicting classifications of pathogenicity
rs1444573033X:30,322,891T/C—likely benign
rs990602963X:30,322,900G/C—likely benign
rs764476639X:30,322,908G/A—pathogenic
rs372429177X:30,322,911T/C—likely benign
rs104894906X:30,322,912G/Tstop gainedpathogenic
rs2147004433X:30,322,913T/C—uncertain significance
rs776457322X:30,322,921G/A—benign
rs104894894X:30,322,926G/Astop gainedpathogenic
rs1452320511X:30,322,930G/A—likely benign
rs778616722X:30,322,933C/T—likely benign
rs749969864X:30,322,939G/A—benign
rs1555972666X:30,322,941C/T—pathogenic
rs1420290442X:30,322,948G/T—likely benign
rs2519049487X:30,322,950G/A—likely benign
rs763718538X:30,326,303G/C—benign
rs2519050784X:30,326,306C/A—likely benign
rs2147006202X:30,326,312C/A—pathogenic
rs1334705963X:30,326,317G/A—conflicting classifications of pathogenicity
rs1926560226X:30,326,320A/G—likely benign
rs2519050800X:30,326,324A/C—uncertain significance
rs777385334X:30,326,330G/A—conflicting classifications of pathogenicity
rs104894896X:30,326,335C/Amissense variantpathogenic
rs104894899X:30,326,339A/Tmissense variantpathogenic
rs386134263X:30,326,340G/Amissense variantpathogenic
rs104894900X:30,326,343A/Cmissense variantpathogenic
rs1260196584X:30,326,356G/A—likely benign
rs1213986618X:30,326,360C/T—uncertain significance
rs879208409X:30,326,362G/A—likely benign
rs1325917476X:30,326,372C/T—uncertain significance
rs104894886X:30,326,374C/Tstop gainedpathogenic
rs2519050843X:30,326,377G/T—pathogenic
rs2519050847X:30,326,378C/A—uncertain significance
rs386134262X:30,326,387A/Gmissense variantpathogenic
rs2519050857X:30,326,399A/C—uncertain significance
rs746136176X:30,326,413G/A—likely benign
rs775565487X:30,326,416G/A—likely benign
rs371576376X:30,326,419G/T—likely benign
rs201996833X:30,326,441G/T—conflicting classifications of pathogenicity
rs140259346X:30,326,448G/T—conflicting classifications of pathogenicity
rs773382021X:30,326,449T/G—likely benign
rs112775648X:30,326,452C/T—likely benign
rs1467286845X:30,326,458G/A—likely benign
rs751178592X:30,326,459T/C—uncertain significance
rs1442983103X:30,326,461C/T—likely benign
rs1463997279X:30,326,476G/A—likely benign
rs374818572X:30,326,477G/T—uncertain significance
rs752705837X:30,326,487C/G—benign
rs767263700X:30,326,488G/A—likely benign
rs1926565735X:30,326,492C/T—uncertain significance
rs748982448X:30,326,497G/C—benign
rs758704782X:30,326,500C/G—uncertain significance
rs369139831X:30,326,502C/T—benign
rs373426366X:30,326,508G/A—benign
rs768701689X:30,326,512G/T—likely benign
rs2519051000X:30,326,515G/A—likely benign
rs776650491X:30,326,516G/C—likely benign
rs1555972994X:30,326,529G/A—pathogenic
rs377428336X:30,326,542C/G—conflicting classifications of pathogenicity
rs763218130X:30,326,545C/T—likely benign
rs1324519932X:30,326,562C/A—pathogenic
rs369651645X:30,326,569C/T—likely benign
rs1555973010X:30,326,580G/A—pathogenic
rs2519051075X:30,326,582G/A—likely pathogenic
rs2519051077X:30,326,584C/T—likely benign
rs756093741X:30,326,590A/G—likely benign
rs104894907X:30,326,591A/Gmissense variantpathogenic
rs2519051089X:30,326,596G/A—likely benign
rs2147006470X:30,326,600A/G—uncertain significance
rs28935482X:30,326,608C/Gmissense variantpathogenic
rs1489209061X:30,326,609C/G—pathogenic
rs1555973021X:30,326,610A/G—pathogenic
rs137987391X:30,326,611G/A—benign
rs2519051100X:30,326,618C/T—uncertain significance
rs1262073300X:30,326,623C/T—likely benign
rs1060499835X:30,326,633T/Gmissense variantpathogenic
rs104894890X:30,326,634G/Astop gainedpathogenic

Showing 100 of 267 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.