CYP21A2

cytochrome P450 family 21 subfamily A member 2

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 and hydroxylates steroids at the 21 position. Its activity is required for the synthesis of steroid hormones including cortisol and aldosterone. Mutations in this gene cause congenital adrenal hyperplasia. A related pseudogene is located near this gene; gene conversion events involving the functional gene and the pseudogene are thought to account for many cases of steroid 21-hydroxylase deficiency. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants232 total

rsidPosition (GRCh37)AllelesClassClinVar
rs3684314886:32,005,048C/A——
rs4312046:32,005,267C/Tregulatory region variant—
rs47134966:32,005,304A/Gregulatory region variant—
rs1137204656:32,005,355G/Adownstream gene variant—
rs3964586:32,005,649A/G——
rs69060266:32,005,664C/Tregulatory region variant—
rs31306766:32,005,892G/C—uncertain significance
rs13625701946:32,005,990T/C—uncertain significance
rs5574497886:32,006,001C/T—benign
rs114498526:32,006,004T/C—likely benign
rs12467742956:32,006,087G/A—pathogenic
rs5444170366:32,006,098G/A—uncertain significance
rs5549414466:32,006,119A/C—likely benign
rs1863492456:32,006,127C/T—uncertain significance
rs7661826366:32,006,192G/A—likely benign
rs64706:32,006,196C/T—benign
rs21518699766:32,006,200A/G—pathogenic
rs24833106516:32,006,221C/A—uncertain significance
rs7588645346:32,006,236C/A—uncertain significance
rs7646366946:32,006,239G/T—uncertain significance
rs5499499826:32,006,244C/T—uncertain significance
rs7576085336:32,006,248C/T—uncertain significance
rs11856957136:32,006,249G/T—uncertain significance
rs725527436:32,006,258G/A—pathogenic
rs7460971446:32,006,259G/A—pathogenic
rs17759884066:32,006,267G/A—pathogenic
rs725527446:32,006,268G/T—uncertain significance
rs7719424496:32,006,276G/A—uncertain significance
rs13033870856:32,006,288T/A—uncertain significance
rs13126727696:32,006,290C/T—likely pathogenic
rs93782516:32,006,291C/Amissense variantpathogenic
rs14891131876:32,006,293C/T—uncertain significance
rs2006483816:32,006,303C/T—uncertain significance
rs10304677676:32,006,315A/T—pathogenic
rs64686:32,006,317C/T—benign
rs17759961656:32,006,323C/T—pathogenic
rs12405397216:32,006,336C/G—uncertain significance
rs64646:32,006,337C/A—benign
rs5663063106:32,006,342A/G—conflicting classifications of pathogenicity
rs14134334216:32,006,368G/A—likely pathogenic
rs93782526:32,006,387A/Tmissense variantpathogenic
rs64526:32,006,453C/T—likely benign
rs15823005656:32,006,481G/C—benign
rs3683305936:32,006,523G/A—uncertain significance
rs13332782236:32,006,529T/C—pathogenic
rs11853509166:32,006,564G/T—uncertain significance
rs15543045136:32,006,570A/G—pathogenic
rs7791449106:32,006,589G/A—pathogenic
rs7527712136:32,006,591A/G—uncertain significance
rs64626:32,006,597C/T—benign
rs7457125206:32,006,598G/A—uncertain significance
rs1841773666:32,006,625T/A—likely benign
rs5436337656:32,006,644T/G—likely benign
rs15823015516:32,006,697C/G—benign
rs15823016856:32,006,735C/T—likely benign
rs15823017186:32,006,741C/T—benign
rs15823017876:32,006,756C/G—benign
rs15823019226:32,006,775G/T—benign
rs13820055786:32,006,776G/C—benign
rs15823019626:32,006,777T/A—benign
rs10515075396:32,006,780G/A—benign
rs15823020406:32,006,782A/G—benign
rs12822396436:32,006,783G/A—benign
rs792496766:32,006,791A/G—benign
rs64676:32,006,858C/Gdownstream gene variantpathogenic
rs1939225446:32,006,864C/G—conflicting classifications of pathogenicity
rs1478217516:32,006,867G/A—likely benign
rs15823026256:32,006,869A/G—pathogenic
rs8860383036:32,006,878G/A—likely benign
rs64746:32,006,886G/Amissense variantbenign
rs14784921796:32,006,892A/G—uncertain significance
rs5500512106:32,006,895C/T—no classification for the single variant
rs64556:32,006,896G/A—likely benign
rs12587496896:32,006,900C/T—benign
rs1939225456:32,006,905C/G—conflicting classifications of pathogenicity
rs3879065106:32,006,910——pathogenic
rs12962682756:32,006,919C/T—likely pathogenic
rs1939225466:32,006,920C/T—conflicting classifications of pathogenicity
rs2676067576:32,006,939A/Cmissense variantpathogenic
rs5660653756:32,006,949C/T—uncertain significance
rs3714128896:32,006,951C/T—conflicting classifications of pathogenicity
rs10575190696:32,006,955C/Gstop gainedpathogenic
rs14330296796:32,006,960C/T—benign
rs7703795366:32,006,975C/T—likely pathogenic
rs15823033926:32,006,983C/T—benign
rs17760709196:32,006,996G/A—likely pathogenic
rs7744223926:32,006,999G/A—conflicting classifications of pathogenicity
rs64666:32,007,063C/T—benign
rs5696708046:32,007,064G/A—likely benign
rs7808757916:32,007,083G/A—benign
rs15823040926:32,007,130C/T—benign
rs5774501246:32,007,133C/T—conflicting classifications of pathogenicity
rs24833217126:32,007,167T/C—uncertain significance
rs24833217316:32,007,169G/T—pathogenic
rs12298097786:32,007,170A/G—uncertain significance
rs17760908006:32,007,174G/A—uncertain significance
rs7556745506:32,007,178T/G—uncertain significance
rs13130668186:32,007,182C/G—likely pathogenic
rs15823044166:32,007,184C/G—uncertain significance
rs15823044416:32,007,185T/G—uncertain significance

Showing 100 of 232 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.