CYP7B1

cytochrome P450 family 7 subfamily B 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 membrane protein catalyzes the first reaction in the cholesterol catabolic pathway of extrahepatic tissues, which converts cholesterol to bile acids. This enzyme likely plays a minor role in total bile acid synthesis, but may also be involved in the development of atherosclerosis, neurosteroid metabolism and sex hormone synthesis. Mutations in this gene have been associated with hereditary spastic paraplegia (SPG5 or HSP), an autosomal recessive disorder. [provided by RefSeq, Apr 2016]

Known Variants422 total

rsidPosition (GRCh37)AllelesClassClinVar
rs24871374998:65,500,355C/T—likely benign
rs625198418:65,501,505G/Aintron variant—
rs736895488:65,502,373C/T—likely benign
rs775765098:65,505,208G/A——
rs1893352788:65,508,415T/C——
rs7580565428:65,508,624A/C—uncertain significance
rs1134731708:65,508,670T/C—benign
rs1894707108:65,508,797T/A—uncertain significance
rs1180003128:65,508,862C/A—conflicting classifications of pathogenicity
rs1406464218:65,509,088C/T—uncertain significance
rs81929078:65,509,150G/A—likely benign
rs7483777958:65,509,188T/C—uncertain significance
rs8860435688:65,509,213T/C—uncertain significance
rs13902856018:65,509,215T/C—uncertain significance
rs15857956818:65,509,223T/C—likely benign
rs11925132508:65,509,235A/T—uncertain significance
rs13948821038:65,509,239G/T—uncertain significance
rs3728005978:65,509,244C/T—conflicting classifications of pathogenicity
rs21296297488:65,509,246G/A—uncertain significance
rs12597282048:65,509,252C/A—uncertain significance
rs1147970348:65,509,256C/T—conflicting classifications of pathogenicity
rs12134474598:65,509,259C/A—uncertain significance
rs7557299668:65,509,263C/T—uncertain significance
rs1161712748:65,509,264G/Amissense variantpathogenic
rs1158196698:65,509,268G/A—likely benign
rs24871531488:65,509,271G/A—likely benign
rs3771751658:65,509,278C/A—uncertain significance
rs12126382448:65,509,279C/T—uncertain significance
rs7567685058:65,509,281A/G—uncertain significance
rs11850200318:65,509,282T/C—uncertain significance
rs7786615438:65,509,283G/A—likely benign
rs24871532088:65,509,286C/T—likely benign
rs7458050588:65,509,290T/C—uncertain significance
rs18051234078:65,509,311A/G—uncertain significance
rs2676067588:65,509,312A/Tmissense variantpathogenic
rs3695910128:65,509,313A/G—likely benign
rs14363238188:65,509,317G/A—uncertain significance
rs10322293868:65,509,320A/G—uncertain significance
rs10146500858:65,509,330C/T—uncertain significance
rs24871533978:65,509,331C/T—likely benign
rs13536040838:65,509,337T/C—likely benign
rs7493127478:65,509,344A/G—uncertain significance
rs7710557598:65,509,349C/T—uncertain significance
rs7600798868:65,509,355T/G—likely benign
rs7758069798:65,509,365C/T—uncertain significance
rs7696760298:65,509,366G/A—pathogenic
rs7610606348:65,509,374C/T—conflicting classifications of pathogenicity
rs24871535768:65,509,376T/C—likely benign
rs24871536308:65,509,388A/G—likely benign
rs11905624438:65,509,392C/G—likely pathogenic
rs24871536458:65,509,394A/G—likely benign
rs2012813078:65,509,397C/T—conflicting classifications of pathogenicity
rs13760710518:65,509,398G/A—conflicting classifications of pathogenicity
rs8860630728:65,509,410C/T—uncertain significance
rs15635369948:65,509,411A/C—uncertain significance
rs21296297528:65,509,416A/G—uncertain significance
rs24871537628:65,509,423T/C—uncertain significance
rs15857959508:65,509,429T/G—likely benign
rs1815780638:65,509,457A/G—likely benign
rs12786883448:65,509,460T/C—likely benign
rs7780820948:65,509,464A/G—uncertain significance
rs1219086118:65,509,470C/Tmissense variantpathogenic
rs3679166928:65,509,471G/A—pathogenic
rs1164621838:65,509,486C/T—uncertain significance
rs24871541058:65,509,488T/C—pathogenic
rs24871541208:65,509,492A/C—likely benign
rs9447182728:65,509,494G/A—likely benign
rs13335629908:65,509,496A/C—likely benign
rs7759844728:65,509,500T/C—likely benign
rs1176576678:65,509,520T/C—likely benign
rs78224298:65,509,694G/A—benign
rs69919898:65,517,169G/A—benign
rs13241623778:65,517,223C/T—likely benign
rs7628353958:65,517,224T/C—likely benign
rs13877124808:65,517,226G/A—likely benign
rs24871678858:65,517,229G/A—likely benign
rs24871678908:65,517,230T/A—likely benign
rs14815516388:65,517,234C/T—uncertain significance
rs7475143998:65,517,238C/T—pathogenic
rs3695667388:65,517,239C/T—uncertain significance
rs24871679478:65,517,248T/C—likely benign
rs21296299408:65,517,250C/T—uncertain significance
rs7694500328:65,517,252A/G—uncertain significance
rs12709223858:65,517,263G/A—likely benign
rs14678150628:65,517,270T/C—conflicting classifications of pathogenicity
rs7624665678:65,517,275G/A—likely benign
rs7676113878:65,517,279G/A—conflicting classifications of pathogenicity
rs18052514058:65,517,281A/C—likely benign
rs14127373078:65,517,282G/A—conflicting classifications of pathogenicity
rs24871680718:65,517,284A/G—likely benign
rs14736311468:65,517,289T/C—uncertain significance
rs14586541958:65,517,301C/G—uncertain significance
rs7654430368:65,517,304C/A—pathogenic
rs13948287748:65,517,309C/T—uncertain significance
rs725546208:65,517,310G/Astop gainedpathogenic
rs18052521898:65,517,312A/G—uncertain significance
rs18052524958:65,517,319A/G—uncertain significance
rs13505278068:65,517,321T/A—uncertain significance
rs7471441038:65,517,325C/T—uncertain significance
rs3728144748:65,517,326G/A—likely benign

Showing 100 of 422 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.