LCAT

lecithin-cholesterol acyltransferase

Summary

This gene encodes the extracellular cholesterol esterifying enzyme, lecithin-cholesterol acyltransferase. The esterification of cholesterol is required for cholesterol transport. Mutations in this gene have been found to cause fish-eye disease as well as LCAT deficiency. [provided by RefSeq, Jul 2008]

Known Variants210 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1476306	16:67,973,171	C/G	—	—
rs17240406	16:67,973,507	A/G	—	benign
rs17240392	16:67,973,569	T/C	—	benign
rs886052219	16:67,973,795	A/G	—	uncertain significance
rs376685971	16:67,973,820	G/A	—	conflicting classifications of pathogenicity
rs1440905440	16:67,973,831	G/A	—	likely benign
rs2544402503	16:67,973,836	C/T	—	uncertain significance
rs1471466689	16:67,973,839	T/C	—	likely benign
rs2058283051	16:67,973,840	C/T	—	likely benign
rs1440192009	16:67,973,846	T/A	—	likely benign
rs370803551	16:67,973,863	G/A	—	likely pathogenic
rs1343203166	16:67,973,904	A/G	—	uncertain significance
rs1598202334	16:67,973,907	T/C	—	uncertain significance
rs779114194	16:67,973,920	T/C	—	pathogenic
rs772313264	16:67,973,938	C/T	—	uncertain significance
rs202010908	16:67,973,939	G/A	—	likely benign
rs1012071419	16:67,973,942	C/T	—	likely benign
rs745833816	16:67,973,945	G/A	—	likely benign
rs1044889786	16:67,973,948	C/A	—	likely benign
rs5923	16:67,973,953	G/A	synonymous variant	benign
rs775419267	16:67,973,957	C/T	—	conflicting classifications of pathogenicity
rs2058284056	16:67,973,967	G/A	—	uncertain significance
rs994047516	16:67,973,993	G/A	—	likely benign
rs145126045	16:67,973,998	C/T	—	likely benign
rs2544402740	16:67,974,005	G/A	—	likely benign
rs757082253	16:67,974,011	C/T	—	likely benign
rs756113909	16:67,974,012	G/A	—	uncertain significance
rs368689576	16:67,974,017	C/T	—	conflicting classifications of pathogenicity
rs121908053	16:67,974,018	G/A	missense variant	pathogenic
rs2058284417	16:67,974,032	C/T	—	likely benign
rs2544402793	16:67,974,042	A/T	—	uncertain significance
rs761065754	16:67,974,045	C/T	—	likely benign
rs2544402802	16:67,974,046	C/T	—	uncertain significance
rs2058284506	16:67,974,047	C/T	—	uncertain significance
rs199711526	16:67,974,052	G/T	—	uncertain significance
rs2544402818	16:67,974,053	G/A	—	likely benign
rs777035916	16:67,974,056	C/T	—	likely benign
rs759917018	16:67,974,057	G/A	—	uncertain significance
rs112401891	16:67,974,062	G/A	—	likely benign
rs1208786430	16:67,974,068	G/A	—	likely benign
rs57506973	16:67,974,076	C/T	—	uncertain significance
rs375862950	16:67,974,077	G/A	—	likely benign
rs751707443	16:67,974,086	G/T	—	likely benign
rs368229427	16:67,974,090	C/T	—	likely benign
rs202017590	16:67,974,091	G/A	—	uncertain significance
rs749186904	16:67,974,095	C/T	—	likely benign
rs28940888	16:67,974,096	G/A	missense variant	pathogenic
rs1407723697	16:67,974,102	A/C	—	uncertain significance
rs772762775	16:67,974,103	G/T	—	uncertain significance
rs746487870	16:67,974,109	C/T	—	uncertain significance
rs770356071	16:67,974,110	G/A	—	conflicting classifications of pathogenicity
rs138943456	16:67,974,113	G/A	—	likely benign
rs776035233	16:67,974,133	C/T	—	pathogenic
rs1183425969	16:67,974,140	T/C	—	likely benign
rs139453193	16:67,974,149	T/G	—	conflicting classifications of pathogenicity
rs751757278	16:67,974,150	C/A	—	uncertain significance
rs952228539	16:67,974,158	G/A	—	likely benign
rs753759978	16:67,974,165	C/T	—	uncertain significance
rs121908048	16:67,974,179	C/T	missense variant	pathogenic
rs2544402987	16:67,974,187	A/G	—	uncertain significance
rs149389101	16:67,974,205	G/C	—	uncertain significance
rs1287130448	16:67,974,212	A/G	—	likely benign
rs780635568	16:67,974,227	G/A	—	likely benign
rs770469492	16:67,974,231	C/T	—	uncertain significance
rs559100013	16:67,974,232	G/A	—	uncertain significance
rs2544403035	16:67,974,240	T/C	—	uncertain significance
rs200225997	16:67,974,251	G/A	—	conflicting classifications of pathogenicity
rs761999436	16:67,974,263	G/T	—	uncertain significance
rs2544403069	16:67,974,267	A/G	—	uncertain significance
rs1478362225	16:67,974,268	C/T	—	uncertain significance
rs767628388	16:67,974,269	G/A	—	conflicting classifications of pathogenicity
rs2544403082	16:67,974,281	C/T	—	pathogenic
rs1221945564	16:67,974,285	G/A	—	conflicting classifications of pathogenicity
rs373437836	16:67,974,290	G/A	—	likely benign
rs532898663	16:67,974,291	C/T	—	uncertain significance
rs777491211	16:67,974,292	G/A	—	uncertain significance
rs1838131448	16:67,974,298	G/A	—	uncertain significance
rs121908054	16:67,974,303	A/G	missense variant	pathogenic
rs2544403115	16:67,974,311	G/A	—	likely benign
rs780824776	16:67,974,327	C/T	—	pathogenic
rs745320775	16:67,974,328	G/A	—	likely pathogenic
rs2544403136	16:67,974,334	C/T	—	uncertain significance
rs1267024912	16:67,974,335	C/T	—	likely benign
rs375227660	16:67,974,344	C/T	—	likely benign
rs2544403151	16:67,974,349	T/A	—	uncertain significance
rs121908049	16:67,974,374	G/T	missense variant	pathogenic
rs774374510	16:67,976,248	T/C	—	likely benign
rs750086555	16:67,976,253	G/C	—	conflicting classifications of pathogenicity
rs1248151956	16:67,976,277	A/G	—	uncertain significance
rs1444788549	16:67,976,280	A/C	—	uncertain significance
rs144075659	16:67,976,285	G/C	—	likely benign
rs779223831	16:67,976,297	G/A	—	likely benign
rs1598203790	16:67,976,312	C/A	—	likely benign
rs28942087	16:67,976,316	A/G	missense variant	pathogenic
rs4986970	16:67,976,320	A/C	missense variant	uncertain significance
rs778180616	16:67,976,321	G/A	—	likely benign
rs1274630175	16:67,976,341	G/A	—	uncertain significance
rs1291364028	16:67,976,353	C/T	—	uncertain significance
rs769919260	16:67,976,359	G/A	—	uncertain significance
rs761864380	16:67,976,365	G/A	—	uncertain significance

Showing 100 of 210 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.