CYP11A1

cytochrome P450 family 11 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 protein localizes to the mitochondrial inner membrane and catalyzes the conversion of cholesterol to pregnenolone, the first and rate-limiting step in the synthesis of the steroid hormones. Two transcript variants encoding different isoforms have been found for this gene. The cellular location of the smaller isoform is unclear since it lacks the mitochondrial-targeting transit peptide. [provided by RefSeq, Jul 2008]

Known Variants282 total

rsidPosition (GRCh37)AllelesClassClinVar
rs254832861815:74,630,325T/C—likely benign
rs140706125415:74,630,337A/G—likely benign
rs254832863615:74,630,340G/T—likely benign
rs254832864415:74,630,346G/A—likely benign
rs117251790715:74,630,360T/C—uncertain significance
rs77105983315:74,630,361G/A—likely benign
rs86731192715:74,630,368T/G—uncertain significance
rs76995663715:74,630,385G/A—likely benign
rs76443372515:74,630,406G/A—likely benign
rs37739233715:74,630,415T/C—likely benign
rs75324568715:74,630,418G/T—likely benign
rs254832870815:74,630,424A/G—likely benign
rs254832872615:74,630,454G/C—likely benign
rs75832667015:74,630,459T/C—likely benign
rs15061509815:74,630,460G/A—likely benign
rs227935715:74,630,623T/Cdownstream gene variantbenign
rs101930963515:74,630,893T/C—likely benign
rs145830248515:74,630,897C/T—likely benign
rs76482673715:74,630,898C/G—likely benign
rs159615717515:74,630,915G/A—likely benign
rs254832906815:74,630,918G/A—likely benign
rs91444428515:74,630,921G/A—likely benign
rs254832907615:74,630,927G/A—likely benign
rs76398580815:74,630,938G/A—likely benign
rs75705582415:74,630,944C/T—uncertain significance
rs78102801015:74,630,945G/A—likely benign
rs37252342815:74,630,951C/T—likely benign
rs14123584715:74,630,953G/A—pathogenic
rs156705077315:74,630,967C/T—likely pathogenic
rs53578296815:74,630,968G/A—likely pathogenic
rs254832909815:74,630,969C/T—likely benign
rs77510294715:74,630,995G/A—pathogenic
rs254832911615:74,630,996G/A—likely benign
rs254832911815:74,630,999G/A—likely benign
rs206059083915:74,631,008G/A—likely benign
rs206059085815:74,631,010T/C—likely benign
rs14683094215:74,631,011C/T—likely benign
rs74954759515:74,631,014G/A—likely benign
rs75037018615:74,631,023C/T—likely benign
rs147365348215:74,631,032G/A—likely benign
rs57118331615:74,631,050C/T—likely benign
rs77904333415:74,631,051G/A—uncertain significance
rs74839063715:74,631,052G/A—uncertain significance
rs14740534415:74,631,056G/A—likely benign
rs77152008115:74,631,071C/T—likely benign
rs76241275915:74,631,076G/A—pathogenic
rs76820518115:74,631,077G/A—likely benign
rs76146752115:74,631,080C/G—likely benign
rs126873438915:74,631,089G/A—likely benign
rs12191281415:74,631,102A/Tmissense variantpathogenic
rs76062728215:74,631,106G/A—likely benign
rs121935314515:74,631,107T/G—likely benign
rs76635120115:74,631,115G/A—likely benign
rs18990140715:74,631,125C/G—benign
rs254832939515:74,631,560C/A—likely benign
rs76149694615:74,631,563G/C—likely benign
rs254832940015:74,631,569T/C—likely benign
rs76140061715:74,631,570G/A—likely benign
rs125038931415:74,631,581G/A—likely benign
rs88605147915:74,631,613C/T—uncertain significance
rs20002950315:74,631,619C/A—conflicting classifications of pathogenicity
rs254832945815:74,631,644G/A—likely benign
rs13817716715:74,631,647G/A—conflicting classifications of pathogenicity
rs53718739715:74,631,650G/A—conflicting classifications of pathogenicity
rs37260337515:74,631,660C/T—likely benign
rs37724292215:74,631,661G/A—likely benign
rs121000425015:74,631,662G/A—likely benign
rs206059509215:74,631,664A/G—likely benign
rs206059512315:74,631,668G/A—likely benign
rs36918306215:74,631,669G/A—likely benign
rs20105689215:74,631,670G/A—likely benign
rs254832947415:74,631,671C/T—likely benign
rs254832947615:74,631,673C/T—likely benign
rs77153914415:74,631,675C/T—likely benign
rs254832962515:74,631,909T/C—likely benign
rs78064830515:74,631,912G/T—likely benign
rs254832962815:74,631,913T/C—likely benign
rs140392771115:74,631,915G/T—likely benign
rs254832963115:74,631,916T/C—likely benign
rs100129399315:74,631,917T/A—likely benign
rs159615778915:74,631,919T/C—likely benign
rs254832963515:74,631,921G/A—likely benign
rs254832964015:74,631,930T/G—likely benign
rs75796024615:74,631,932G/A—likely benign
rs128533915215:74,631,936C/T—likely benign
rs89567244115:74,631,963G/T—likely benign
rs77612681015:74,631,966C/A—likely benign
rs76947690315:74,631,978C/T—likely benign
rs78064953915:74,631,981G/A—likely benign
rs76427039115:74,631,986T/A—uncertain significance
rs5798276215:74,631,994T/C—likely benign
rs128406039515:74,632,007G/A—likely pathogenic
rs98731881215:74,632,008C/T—likely benign
rs12191281215:74,632,009G/Amissense variantpathogenic
rs206059741315:74,632,012G/A—uncertain significance
rs206059755315:74,632,024G/A—uncertain significance
rs20224632615:74,632,027C/T—uncertain significance
rs7254750815:74,632,028G/Amissense variantpathogenic
rs74549796015:74,632,038C/T—likely benign
rs254832972415:74,632,065A/G—likely benign

Showing 100 of 282 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.