CYP51A1

cytochrome P450 family 51 subfamily A member 1

Summary

This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This endoplasmic reticulum protein participates in the synthesis of cholesterol by catalyzing the removal of the 14alpha-methyl group from lanosterol. Homologous genes are found in all three eukaryotic phyla, fungi, plants, and animals, suggesting that this is one of the oldest cytochrome P450 genes. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Known Variants70 total

rsidPosition (GRCh37)AllelesClassClinVar
rs64653487:91,742,602A/Gcoding sequence variant—
rs1151413877:91,742,699A/G—likely benign
rs77938617:91,742,728C/G—benign
rs7570586377:91,742,980C/A—uncertain significance
rs1393109377:91,743,018A/G—likely benign
rs25353498377:91,743,056A/G—uncertain significance
rs18195171647:91,743,058T/C—uncertain significance
rs1495763317:91,743,072A/G—likely benign
rs25353499087:91,743,089G/A—uncertain significance
rs77978347:91,743,150A/G—benign
rs1407533917:91,743,403T/C—likely benign
rs1467335857:91,746,395T/C—likely benign
rs596838527:91,746,400G/A—likely benign
rs1381094737:91,746,417C/A—uncertain significance
rs7574289097:91,746,418G/A—uncertain significance
rs7792121767:91,746,421C/G—uncertain significance
rs7804336857:91,746,439G/A—uncertain significance
rs25353548477:91,746,513T/C—uncertain significance
rs23015597:91,746,727T/C—benign
rs734075477:91,747,659T/C—benign
rs1500902747:91,747,869T/C—benign
rs25353568497:91,747,901C/T—uncertain significance
rs25353568777:91,747,910A/T—uncertain significance
rs1842132877:91,747,943G/T—benign
rs69746077:91,750,116G/C——
rs18197230827:91,752,461C/A—uncertain significance
rs22697277:91,752,690C/A—benign
rs617350657:91,753,050G/A—benign
rs9440156487:91,753,109G/A—uncertain significance
rs5673004927:91,753,147C/T—uncertain significance
rs7659618797:91,753,165C/A—uncertain significance
rs1504937397:91,753,356T/C—likely benign
rs1149975957:91,755,453C/T—likely benign
rs1424371787:91,755,655T/G—likely benign
rs5466532127:91,755,758G/C—benign
rs572180447:91,756,753T/C—benign
rs11571463677:91,756,876T/C—uncertain significance
rs1392395527:91,756,903T/C—uncertain significance
rs14417861837:91,756,915T/C—uncertain significance
rs1880920967:91,757,242A/T—likely benign
rs121122627:91,757,773C/T——
rs77842487:91,758,111A/G—benign
rs14281480047:91,758,193C/T—uncertain significance
rs7585531067:91,758,247G/A—uncertain significance
rs13280307607:91,758,318A/C—uncertain significance
rs7595179927:91,758,328T/A—uncertain significance
rs1464745637:91,758,346T/C—uncertain significance
rs7476263597:91,758,376A/G—likely benign
rs284959757:91,758,385G/A—benign
rs47290217:91,758,422C/A—benign
rs577846287:91,760,882G/A—benign
rs573642637:91,760,964C/T—benign
rs1472054017:91,761,053T/G—likely benign
rs7566951497:91,761,092T/C—uncertain significance
rs18199260357:91,761,099C/T—uncertain significance
rs1382055087:91,761,117T/C—likely benign
rs13529698677:91,761,183T/C—uncertain significance
rs776692347:91,761,233A/G—benign
rs12833911417:91,763,511G/C—uncertain significance
rs1469642817:91,763,586G/A—likely benign
rs7777013587:91,763,599A/T—uncertain significance
rs12324190527:91,763,602T/C—uncertain significance
rs7721921977:91,763,609T/A—uncertain significance
rs18199960407:91,763,615G/T—uncertain significance
rs13701675467:91,763,632C/A—uncertain significance
rs1380067857:91,763,635G/A—likely benign
rs3692342007:91,763,727A/G—likely benign
rs1178143117:91,764,054C/T—likely benign
rs42787:91,764,102C/T—benign
rs42797:91,764,128C/A—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.