CYP17A1

cytochrome P450 family 17 subfamily A member 1

Pharmacogene

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 protein localizes to the endoplasmic reticulum. It has both 17alpha-hydroxylase and 17,20-lyase activities and is a key enzyme in the steroidogenic pathway that produces progestins, mineralocorticoids, glucocorticoids, androgens, and estrogens. Mutations in this gene are associated with isolated steroid-17 alpha-hydroxylase deficiency, 17-alpha-hydroxylase/17,20-lyase deficiency, pseudohermaphroditism, and adrenal hyperplasia. [provided by RefSeq, Jul 2008]

Known Variants420 total

rsidPosition (GRCh37)AllelesClassClinVar
rs76339887910:102,830,742C/Tmissense variantpathogenic
rs125046356210:102,830,743G/Amissense variantpathogenic
rs75613516810:102,830,761TGAAAGAGTC/Tinframe deletion—
rs77763836410:102,830,910C/Tmissense variantpathogenic
rs86822860310:102,830,911G/Amissense variantpathogenic
rs10489414010:102,830,979A/Cmissense variant—
rs117868477010:102,830,983G/Amissense variantpathogenic
rs36783370910:102,831,525G/Cmissense variantpathogenic
rs76069541010:102,832,532T/Amissense variantpathogenic
rs142356012310:102,832,533G/Cmissense variantpathogenic
rs75281184310:102,832,565C/Tmissense variantpathogenic
rs75196011310:102,832,587C/Tmissense variantlikely pathogenic
rs77280457010:102,832,655A/Gmissense variantpathogenic
rs75906023310:102,832,656TCTC/Tinframe deletion—
rs123439230210:102,834,918A/Tmissense variant—
rs75254077710:102,834,930G/Tmissense variantpathogenic
rs77838914010:102,837,093C/Tmissense variant—
rs118314739010:102,837,171T/Gmissense variant—
rs12143431910:102,837,199TGAA/Tinframe deletion—
rs88604666510:104,590,329G/A—uncertain significance
rs88604666610:104,590,392G/T—uncertain significance
rs53722029510:104,590,394G/T—uncertain significance
rs14506739910:104,590,462G/A—conflicting classifications of pathogenicity
rs74718633110:104,590,465G/T—uncertain significance
rs77115699510:104,590,471C/G—uncertain significance
rs104664059810:104,590,473C/T—uncertain significance
rs91662548910:104,590,477C/T—likely benign
rs249323385810:104,590,483T/C—likely benign
rs77125916410:104,590,494C/A—uncertain significance
rs53943511110:104,590,498G/A—conflicting classifications of pathogenicity
rs76446926110:104,590,503C/T—uncertain significance
rs213408104110:104,590,507G/T—likely benign
rs14755744710:104,590,528G/A—likely benign
rs77868976310:104,590,533G/A—likely benign
rs213408105810:104,590,537G/C—likely benign
rs213408106310:104,590,543C/T—likely benign
rs75829421510:104,590,546G/A—likely benign
rs249323407510:104,590,563A/T—uncertain significance
rs77756753210:104,590,564G/A—likely benign
rs74681335310:104,590,572G/A—likely pathogenic
rs14090315310:104,590,574C/T—uncertain significance
rs249323412510:104,590,576A/G—likely benign
rs78145159010:104,590,578C/G—uncertain significance
rs213408108910:104,590,579A/G—likely benign
rs213408109310:104,590,582T/G—likely benign
rs184407749910:104,590,591C/T—likely benign
rs15017171110:104,590,593G/A—likely benign
rs20177421910:104,590,597G/A—likely benign
rs135275497910:104,590,598A/C—uncertain significance
rs249323421010:104,590,605G/A—pathogenic
rs55645145010:104,590,608G/A—likely benign
rs13863012710:104,590,623T/C—uncertain significance
rs249323425910:104,590,624G/A—likely benign
rs95709935510:104,590,626G/A—uncertain significance
rs10489415110:104,590,628A/Gmissense variantpathogenic
rs130978768410:104,590,630G/T—likely benign
rs75929674310:104,590,633C/T—likely benign
rs76475849710:104,590,634T/G—uncertain significance
rs125140841110:104,590,639G/A—likely benign
rs75216420710:104,590,640C/T—likely pathogenic
rs37182536310:104,590,641G/A—pathogenic
rs75708328710:104,590,680C/T—pathogenic
rs53570500510:104,590,681G/A—likely benign
rs249323438710:104,590,682A/G—pathogenic
rs249323439410:104,590,685G/A—likely pathogenic
rs249323440710:104,590,693G/A—likely benign
rs616410:104,590,702C/T—likely benign
rs10489414510:104,590,703G/Amissense variantpathogenic
rs55421751410:104,590,717G/C—conflicting classifications of pathogenicity
rs249323445810:104,590,720C/T—likely benign
rs74939228210:104,590,721C/T—uncertain significance
rs76918855710:104,590,723C/T—pathogenic
rs249323447510:104,590,726T/G—likely benign
rs10489415510:104,590,739C/Tmissense variantpathogenic
rs90866054210:104,590,743C/G—likely pathogenic
rs145693619610:104,590,746C/T—likely benign
rs213408125910:104,590,750C/T—likely benign
rs134729120210:104,590,754G/A—likely benign
rs129339429710:104,590,758G/A—likely benign
rs77252854410:104,590,759G/T—likely benign
rs140254285110:104,590,761A/G—likely benign
rs4552823710:104,590,923C/T—likely benign
rs28485010:104,590,965A/G—benign
rs1119141310:104,590,970A/G—benign
rs1088378310:104,591,152T/Aupstream gene variantlikely benign
rs28484910:104,591,182G/T—likely benign
rs37210800510:104,591,245G/A—likely benign
rs249323533710:104,591,248G/A—likely benign
rs249323535410:104,591,257A/G—likely benign
rs156477772410:104,591,260C/T—likely pathogenic
rs14887797010:104,591,264C/A—pathogenic
rs155487984610:104,591,267G/A—likely pathogenic
rs75505044810:104,591,275C/T—likely benign
rs213408167310:104,591,280C/G—uncertain significance
rs77916746510:104,591,281C/T—likely benign
rs137049388710:104,591,283G/T—likely pathogenic
rs249323554710:104,591,291C/T—pathogenic
rs10489414310:104,591,292A/Cmissense variantuncertain significance
rs104967060410:104,591,311C/T—likely benign
rs20122206510:104,591,314C/T—likely benign

Showing 100 of 420 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.