CYP26C1

cytochrome P450 family 26 subfamily C 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 enzyme is involved in the catabolism of all-trans- and 9-cis-retinoic acid, and thus contributes to the regulation of retinoic acid levels in cells and tissues. This gene is adjacent to a related gene on chromosome 10q23.33. [provided by RefSeq, Jul 2008]

Known Variants60 total

rsidPosition (GRCh37)AllelesClassClinVar
rs14266226710:94,821,067G/C—likely benign
rs75137938210:94,821,086G/T—likely benign
rs14490630810:94,821,102C/T—likely benign
rs95948943910:94,821,141C/T—uncertain significance
rs76654238410:94,821,193T/A—uncertain significance
rs14294321310:94,821,204A/T—conflicting classifications of pathogenicity
rs249254543810:94,821,768G/A—uncertain significance
rs14799946510:94,821,878C/G—uncertain significance
rs213441100710:94,821,890C/T—uncertain significance
rs20128461710:94,821,918A/C—likely benign
rs134686015410:94,821,926C/T—uncertain significance
rs123983371110:94,821,957G/T—uncertain significance
rs75357106510:94,821,967C/G—likely benign
rs93033103710:94,821,969A/G—uncertain significance
rs116062077310:94,821,981G/T—uncertain significance
rs11408422310:94,822,506G/T—likely benign
rs249254720710:94,822,511A/C—uncertain significance
rs140833234010:94,822,569G/C—likely benign
rs76683352310:94,822,576G/A—likely benign
rs20208626410:94,822,580C/T—benign
rs53435029110:94,822,594G/C—uncertain significance
rs90551788010:94,822,597G/A—uncertain significance
rs95062599210:94,822,619G/T—uncertain significance
rs133044474010:94,822,679C/G—uncertain significance
rs5584371410:94,822,686C/Tsynonymous variant—
rs77013655010:94,822,732C/G—uncertain significance
rs791726710:94,824,145G/A—benign
rs249255147010:94,824,204G/T—uncertain significance
rs54671490210:94,824,221G/A—likely benign
rs20210403910:94,825,713G/A—conflicting classifications of pathogenicity
rs11573818410:94,825,718G/T—benign
rs14725317410:94,825,736C/T—benign
rs76622885110:94,825,767A/G—uncertain significance
rs103804967610:94,825,782C/T—likely benign
rs249255511910:94,825,878G/T—uncertain significance
rs76931630510:94,825,879G/A—uncertain significance
rs77723311010:94,825,887G/A—uncertain significance
rs130249480010:94,825,893C/T—uncertain significance
rs184682563010:94,825,977G/C—uncertain significance
rs92990943310:94,826,043G/A—likely pathogenic
rs1225688910:94,827,183A/G——
rs76590018410:94,828,077G/A—uncertain significance
rs55700480810:94,828,100G/C—uncertain significance
rs86902525310:94,828,128C/G—likely benign
rs249255967910:94,828,144T/C—uncertain significance
rs77280253510:94,828,145G/A—likely benign
rs19981663210:94,828,158C/T—uncertain significance
rs76893202710:94,828,188G/T—uncertain significance
rs184685556810:94,828,198A/G—uncertain significance
rs184685670410:94,828,252C/A—uncertain significance
rs134092779110:94,828,263C/T—uncertain significance
rs37715178610:94,828,279C/T—uncertain significance
rs76051801510:94,828,285C/A—uncertain significance
rs6172950210:94,828,286C/G—benign
rs249256024010:94,828,311C/A—uncertain significance
rs75517173510:94,828,321C/G—uncertain significance
rs37696122910:94,828,353C/A—uncertain significance
rs56571771610:94,828,356G/A—uncertain significance
rs14050247910:94,828,376C/T—likely benign
rs75397173210:94,828,392G/A—uncertain significance

Gene information from NCBI Gene. Variant classifications from ClinVar.