HSD3B7

hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 7

Summary

This gene encodes an enzyme which is involved in the initial stages of the synthesis of bile acids from cholesterol and a member of the short-chain dehydrogenase/reductase superfamily. The encoded protein is a membrane-associated endoplasmic reticulum protein which is active against 7-alpha hydrosylated sterol substrates. Mutations in this gene are associated with a congenital bile acid synthesis defect which leads to neonatal cholestasis, a form of progressive liver disease. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2008]

Known Variants133 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7997479916:30,996,795C/T—benign
rs1244380816:30,996,871G/C—benign
rs1244362716:30,996,872C/G—benign
rs77513786116:30,996,985C/A—likely benign
rs20055513516:30,996,986G/A—conflicting classifications of pathogenicity
rs37446929516:30,997,019G/T—uncertain significance
rs78620087616:30,997,024——pathogenic
rs20179637516:30,997,050A/G—benign
rs75644872216:30,997,051C/T—likely benign
rs74560578816:30,997,059G/A—uncertain significance
rs77530406116:30,997,073C/T—uncertain significance
rs15046421216:30,997,082C/T—uncertain significance
rs76684755516:30,997,083G/A—uncertain significance
rs37749441916:30,997,087C/T—likely benign
rs37101129516:30,997,108C/G—uncertain significance
rs135605000516:30,997,114C/G—uncertain significance
rs205646330016:30,997,122C/G—uncertain significance
rs53079357016:30,997,146G/A—pathogenic
rs88604348216:30,997,152G/T—uncertain significance
rs14349842016:30,997,363C/A—benign
rs79472752016:30,997,364G/A—uncertain significance
rs77344255216:30,997,389C/A—likely benign
rs55111011816:30,997,393C/G—uncertain significance
rs205647023416:30,997,408C/T—likely pathogenic
rs14870673516:30,997,429G/A—uncertain significance
rs14369932816:30,997,437C/T—conflicting classifications of pathogenicity
rs37157675616:30,997,460C/T—uncertain significance
rs156737076616:30,997,466G/C—uncertain significance
rs20061614316:30,997,476C/T—uncertain significance
rs75696381516:30,997,487G/A—uncertain significance
rs155549270516:30,997,505T/C—uncertain significance
rs38790628816:30,997,526G/Tsplice region variantpathogenic
rs7530622616:30,997,730T/G—benign
rs145615837216:30,997,741C/A—uncertain significance
rs76774716416:30,997,744G/T—uncertain significance
rs14680798016:30,997,749C/T—uncertain significance
rs14104577616:30,997,750G/A—uncertain significance
rs36982842516:30,997,752A/C—uncertain significance
rs37408937516:30,997,754C/T—likely benign
rs74708824216:30,997,772G/A—likely benign
rs11764545616:30,997,778C/T—likely benign
rs77292772916:30,997,786G/A—uncertain significance
rs37120844016:30,997,788T/C—uncertain significance
rs105752416216:30,997,806A/G—uncertain significance
rs117324893716:30,997,808C/T—likely benign
rs156737128416:30,997,809A/G—uncertain significance
rs142464261416:30,997,815G/A—uncertain significance
rs75100666216:30,997,818G/A—uncertain significance
rs19973299616:30,997,844C/A—likely benign
rs19990900816:30,997,847C/T—likely benign
rs254393391116:30,997,854T/C—likely pathogenic
rs148424736816:30,997,912T/C—likely benign
rs118254708816:30,997,923C/T—likely benign
rs10489451816:30,997,933G/Amissense variantpathogenic
rs77401849816:30,997,948G/A—uncertain significance
rs75073975816:30,997,992C/T—conflicting classifications of pathogenicity
rs56082682016:30,997,993G/T—pathogenic
rs75099906116:30,998,015A/G—uncertain significance
rs254393512416:30,998,026G/A—likely pathogenic
rs124614902116:30,998,034A/C—likely benign
rs20045876816:30,998,152T/C—benign
rs75524506116:30,998,159A/G—likely pathogenic
rs13790627116:30,998,164C/T—uncertain significance
rs37246312716:30,998,165G/A—likely benign
rs77090516116:30,998,171G/A—uncertain significance
rs14192959616:30,998,186C/T—uncertain significance
rs76019211216:30,998,187G/A—conflicting classifications of pathogenicity
rs156737183316:30,998,194C/T—uncertain significance
rs37674644716:30,998,198G/A—uncertain significance
rs75190424016:30,998,205G/A—uncertain significance
rs76780179016:30,998,214C/T—likely benign
rs88604443516:30,998,215G/A—conflicting classifications of pathogenicity
rs254393622516:30,998,222G/A—uncertain significance
rs20134961116:30,998,237G/A—uncertain significance
rs37656234516:30,998,247C/G—pathogenic
rs74561188816:30,998,259G/A—likely benign
rs14343418616:30,998,266G/A—uncertain significance
rs77502302316:30,998,281C/T—uncertain significance
rs36949306416:30,998,282G/A—uncertain significance
rs54882986816:30,998,285C/T—uncertain significance
rs76079518416:30,998,291C/T—uncertain significance
rs75032766316:30,998,300T/C—uncertain significance
rs74688453316:30,998,311C/T—conflicting classifications of pathogenicity
rs102051965916:30,998,318A/G—uncertain significance
rs78620562716:30,998,325——pathogenic
rs37336511816:30,999,076C/A—benign
rs13915268516:30,999,083C/T—conflicting classifications of pathogenicity
rs20111117316:30,999,084G/A—conflicting classifications of pathogenicity
rs14751010616:30,999,108C/T—conflicting classifications of pathogenicity
rs36934841416:30,999,109G/A—uncertain significance
rs90319189016:30,999,121C/T—uncertain significance
rs76903283016:30,999,122G/A—uncertain significance
rs20038411516:30,999,136C/T—uncertain significance
rs993855016:30,999,142A/Gmissense variantbenign
rs75260140116:30,999,174C/T—uncertain significance
rs75681605216:30,999,190A/C—likely benign
rs1784988016:30,999,198C/T—benign
rs254394164016:30,999,222G/A—likely benign
rs37628651316:30,999,231C/T—uncertain significance
rs19963706316:30,999,232G/A—uncertain significance

Showing 100 of 133 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.