CYP27A1

cytochrome P450 family 27 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 mitochondrial protein oxidizes cholesterol intermediates as part of the bile synthesis pathway. Since the conversion of cholesterol to bile acids is the major route for removing cholesterol from the body, this protein is important for overall cholesterol homeostasis. Mutations in this gene cause cerebrotendinous xanthomatosis, a rare autosomal recessive lipid storage disease. [provided by RefSeq, Jul 2008]

Known Variants813 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs147477169	2:219,646,129	T/C	—	likely benign
rs139710471	2:219,646,176	C/T	—	likely benign
rs145194389	2:219,646,298	A/G	—	likely benign
rs150590414	2:219,646,332	G/T	—	likely benign
rs114345604	2:219,646,470	T/C	—	likely benign
rs182545847	2:219,646,536	T/C	—	uncertain significance
rs528284503	2:219,646,571	C/T	—	uncertain significance
rs187723732	2:219,646,701	C/A	—	conflicting classifications of pathogenicity
rs886055628	2:219,646,724	C/T	—	uncertain significance
rs886055629	2:219,646,744	C/T	—	uncertain significance
rs199891090	2:219,646,900	C/T	—	conflicting classifications of pathogenicity
rs1446633660	2:219,646,906	A/G	—	uncertain significance
rs759003992	2:219,646,907	T/C	—	conflicting classifications of pathogenicity
rs971599666	2:219,646,914	G/T	—	likely benign
rs1943396793	2:219,646,919	G/A	—	uncertain significance
rs1943396825	2:219,646,920	C/T	—	likely benign
rs1364383591	2:219,646,925	C/T	—	uncertain significance
rs1289665937	2:219,646,926	G/C	—	likely benign
rs2106479038	2:219,646,930	C/T	—	likely benign
rs2470201632	2:219,646,931	T/C	—	uncertain significance
rs1943397146	2:219,646,934	G/A	—	uncertain significance
rs1398584213	2:219,646,937	G/A	—	pathogenic
rs1319938730	2:219,646,938	G/A	—	pathogenic
rs764764261	2:219,646,941	G/T	—	likely benign
rs2470201669	2:219,646,942	C/T	—	likely benign
rs1243753558	2:219,646,943	T/C	—	uncertain significance
rs2106479059	2:219,646,944	G/A	—	likely benign
rs1283533264	2:219,646,947	A/T	—	likely benign
rs988463082	2:219,646,950	G/A	—	likely benign
rs2106479063	2:219,646,953	C/G	—	likely benign
rs2470201712	2:219,646,956	C/T	—	likely benign
rs1284837909	2:219,646,957	C/T	—	uncertain significance
rs2106479070	2:219,646,958	G/T	—	uncertain significance
rs1301969299	2:219,646,959	T/C	—	likely benign
rs758959471	2:219,646,960	G/A	—	conflicting classifications of pathogenicity
rs1203579586	2:219,646,961	G/C	—	uncertain significance
rs778193906	2:219,646,962	C/A	—	likely benign
rs751804153	2:219,646,966	T/C	—	uncertain significance
rs757653354	2:219,646,967	G/A	—	uncertain significance
rs781222632	2:219,646,968	C/G	—	uncertain significance
rs1423345815	2:219,646,971	C/G	—	likely benign
rs1255948354	2:219,646,972	C/A	—	uncertain significance
rs1943398664	2:219,646,973	A/G	—	uncertain significance
rs1444634924	2:219,646,974	C/T	—	likely benign
rs2106479103	2:219,646,979	C/G	—	uncertain significance
rs2470201767	2:219,646,980	C/G	—	likely benign
rs192494481	2:219,646,982	G/A	—	uncertain significance
rs371449777	2:219,646,988	A/C	—	uncertain significance
rs958713867	2:219,646,989	G/C	—	uncertain significance
rs1266912871	2:219,646,990	G/A	—	uncertain significance
rs1310841339	2:219,646,992	C/T	—	likely benign
rs780332239	2:219,646,998	C/T	—	likely benign
rs1275043449	2:219,647,002	G/A	—	uncertain significance
rs967210940	2:219,647,004	C/T	—	likely benign
rs773208703	2:219,647,007	C/T	—	likely benign
rs2106479125	2:219,647,009	T/C	—	uncertain significance
rs1354685155	2:219,647,010	C/T	—	likely benign
rs760334139	2:219,647,013	C/T	—	likely benign
rs1559384559	2:219,647,015	C/T	—	uncertain significance
rs1347645351	2:219,647,016	G/C	—	likely benign
rs1201499588	2:219,647,018	A/T	—	uncertain significance
rs2470201839	2:219,647,020	A/T	—	pathogenic
rs2470201841	2:219,647,022	G/A	—	likely benign
rs150389057	2:219,647,025	C/T	—	conflicting classifications of pathogenicity
rs2106479141	2:219,647,028	C/T	—	likely benign
rs2106479143	2:219,647,029	G/A	—	uncertain significance
rs1238340088	2:219,647,031	A/G	—	conflicting classifications of pathogenicity
rs923201483	2:219,647,035	C/T	—	uncertain significance
rs933195273	2:219,647,037	C/T	—	conflicting classifications of pathogenicity
rs1167201363	2:219,647,044	G/A	—	uncertain significance
rs2470201894	2:219,647,046	G/A	—	likely benign
rs1575195847	2:219,647,052	T/C	—	likely benign
rs149101812	2:219,647,053	G/A	—	conflicting classifications of pathogenicity
rs1408697261	2:219,647,055	C/T	—	likely benign
rs570721628	2:219,647,056	C/T	—	uncertain significance
rs1333445399	2:219,647,057	G/C	—	uncertain significance
rs757522001	2:219,647,062	C/G	—	uncertain significance
rs376993392	2:219,647,063	G/T	—	uncertain significance
rs750652986	2:219,647,064	G/A	—	likely benign
rs1314269374	2:219,647,065	C/T	—	likely pathogenic
rs2106479159	2:219,647,070	G/A	—	likely benign
rs2470201937	2:219,647,076	A/G	—	likely benign
rs2470201944	2:219,647,080	G/A	—	uncertain significance
rs780279346	2:219,647,083	A/G	—	uncertain significance
rs2470201954	2:219,647,085	T/A	—	likely benign
rs2470201956	2:219,647,086	C/A	—	uncertain significance
rs2470201958	2:219,647,088	A/C	—	likely benign
rs781157413	2:219,647,090	G/A	—	uncertain significance
rs768798214	2:219,647,092	C/T	—	likely benign
rs2470201969	2:219,647,094	A/C	—	likely benign
rs1366418494	2:219,647,097	A/G	—	likely benign
rs1553614310	2:219,647,098	C/T	—	likely pathogenic
rs1191317525	2:219,647,102	T/C	—	uncertain significance
rs1943400890	2:219,647,104	C/T	—	uncertain significance
rs2470202075	2:219,647,105	G/A	—	uncertain significance
rs1433492467	2:219,647,107	T/G	—	uncertain significance
rs587780327	2:219,647,108	T/G	—	uncertain significance
rs2106479175	2:219,647,110	T/C	—	uncertain significance
rs747003400	2:219,647,119	C/T	—	likely benign
rs138189735	2:219,647,120	T/A	—	uncertain significance

Showing 100 of 813 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.