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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2548328618	15:74,630,325	T/C	—	likely benign
rs1407061254	15:74,630,337	A/G	—	likely benign
rs2548328636	15:74,630,340	G/T	—	likely benign
rs2548328644	15:74,630,346	G/A	—	likely benign
rs1172517907	15:74,630,360	T/C	—	uncertain significance
rs771059833	15:74,630,361	G/A	—	likely benign
rs867311927	15:74,630,368	T/G	—	uncertain significance
rs769956637	15:74,630,385	G/A	—	likely benign
rs764433725	15:74,630,406	G/A	—	likely benign
rs377392337	15:74,630,415	T/C	—	likely benign
rs753245687	15:74,630,418	G/T	—	likely benign
rs2548328708	15:74,630,424	A/G	—	likely benign
rs2548328726	15:74,630,454	G/C	—	likely benign
rs758326670	15:74,630,459	T/C	—	likely benign
rs150615098	15:74,630,460	G/A	—	likely benign
rs2279357	15:74,630,623	T/C	downstream gene variant	benign
rs1019309635	15:74,630,893	T/C	—	likely benign
rs1458302485	15:74,630,897	C/T	—	likely benign
rs764826737	15:74,630,898	C/G	—	likely benign
rs1596157175	15:74,630,915	G/A	—	likely benign
rs2548329068	15:74,630,918	G/A	—	likely benign
rs914444285	15:74,630,921	G/A	—	likely benign
rs2548329076	15:74,630,927	G/A	—	likely benign
rs763985808	15:74,630,938	G/A	—	likely benign
rs757055824	15:74,630,944	C/T	—	uncertain significance
rs781028010	15:74,630,945	G/A	—	likely benign
rs372523428	15:74,630,951	C/T	—	likely benign
rs141235847	15:74,630,953	G/A	—	pathogenic
rs1567050773	15:74,630,967	C/T	—	likely pathogenic
rs535782968	15:74,630,968	G/A	—	likely pathogenic
rs2548329098	15:74,630,969	C/T	—	likely benign
rs775102947	15:74,630,995	G/A	—	pathogenic
rs2548329116	15:74,630,996	G/A	—	likely benign
rs2548329118	15:74,630,999	G/A	—	likely benign
rs2060590839	15:74,631,008	G/A	—	likely benign
rs2060590858	15:74,631,010	T/C	—	likely benign
rs146830942	15:74,631,011	C/T	—	likely benign
rs749547595	15:74,631,014	G/A	—	likely benign
rs750370186	15:74,631,023	C/T	—	likely benign
rs1473653482	15:74,631,032	G/A	—	likely benign
rs571183316	15:74,631,050	C/T	—	likely benign
rs779043334	15:74,631,051	G/A	—	uncertain significance
rs748390637	15:74,631,052	G/A	—	uncertain significance
rs147405344	15:74,631,056	G/A	—	likely benign
rs771520081	15:74,631,071	C/T	—	likely benign
rs762412759	15:74,631,076	G/A	—	pathogenic
rs768205181	15:74,631,077	G/A	—	likely benign
rs761467521	15:74,631,080	C/G	—	likely benign
rs1268734389	15:74,631,089	G/A	—	likely benign
rs121912814	15:74,631,102	A/T	missense variant	pathogenic
rs760627282	15:74,631,106	G/A	—	likely benign
rs1219353145	15:74,631,107	T/G	—	likely benign
rs766351201	15:74,631,115	G/A	—	likely benign
rs189901407	15:74,631,125	C/G	—	benign
rs2548329395	15:74,631,560	C/A	—	likely benign
rs761496946	15:74,631,563	G/C	—	likely benign
rs2548329400	15:74,631,569	T/C	—	likely benign
rs761400617	15:74,631,570	G/A	—	likely benign
rs1250389314	15:74,631,581	G/A	—	likely benign
rs886051479	15:74,631,613	C/T	—	uncertain significance
rs200029503	15:74,631,619	C/A	—	conflicting classifications of pathogenicity
rs2548329458	15:74,631,644	G/A	—	likely benign
rs138177167	15:74,631,647	G/A	—	conflicting classifications of pathogenicity
rs537187397	15:74,631,650	G/A	—	conflicting classifications of pathogenicity
rs372603375	15:74,631,660	C/T	—	likely benign
rs377242922	15:74,631,661	G/A	—	likely benign
rs1210004250	15:74,631,662	G/A	—	likely benign
rs2060595092	15:74,631,664	A/G	—	likely benign
rs2060595123	15:74,631,668	G/A	—	likely benign
rs369183062	15:74,631,669	G/A	—	likely benign
rs201056892	15:74,631,670	G/A	—	likely benign
rs2548329474	15:74,631,671	C/T	—	likely benign
rs2548329476	15:74,631,673	C/T	—	likely benign
rs771539144	15:74,631,675	C/T	—	likely benign
rs2548329625	15:74,631,909	T/C	—	likely benign
rs780648305	15:74,631,912	G/T	—	likely benign
rs2548329628	15:74,631,913	T/C	—	likely benign
rs1403927711	15:74,631,915	G/T	—	likely benign
rs2548329631	15:74,631,916	T/C	—	likely benign
rs1001293993	15:74,631,917	T/A	—	likely benign
rs1596157789	15:74,631,919	T/C	—	likely benign
rs2548329635	15:74,631,921	G/A	—	likely benign
rs2548329640	15:74,631,930	T/G	—	likely benign
rs757960246	15:74,631,932	G/A	—	likely benign
rs1285339152	15:74,631,936	C/T	—	likely benign
rs895672441	15:74,631,963	G/T	—	likely benign
rs776126810	15:74,631,966	C/A	—	likely benign
rs769476903	15:74,631,978	C/T	—	likely benign
rs780649539	15:74,631,981	G/A	—	likely benign
rs764270391	15:74,631,986	T/A	—	uncertain significance
rs57982762	15:74,631,994	T/C	—	likely benign
rs1284060395	15:74,632,007	G/A	—	likely pathogenic
rs987318812	15:74,632,008	C/T	—	likely benign
rs121912812	15:74,632,009	G/A	missense variant	pathogenic
rs2060597413	15:74,632,012	G/A	—	uncertain significance
rs2060597553	15:74,632,024	G/A	—	uncertain significance
rs202246326	15:74,632,027	C/T	—	uncertain significance
rs72547508	15:74,632,028	G/A	missense variant	pathogenic
rs745497960	15:74,632,038	C/T	—	likely benign
rs2548329724	15:74,632,065	A/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.