ACAT1

acetyl-CoA acetyltransferase 1

Summary

This gene encodes a mitochondrially localized enzyme that catalyzes the reversible formation of acetoacetyl-CoA from two molecules of acetyl-CoA. Defects in this gene are associated with 3-ketothiolase deficiency, an inborn error of isoleucine catabolism characterized by urinary excretion of 2-methyl-3-hydroxybutyric acid, 2-methylacetoacetic acid, tiglylglycine, and butanone. [provided by RefSeq, Feb 2009]

Known Variants516 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs566741161	11:107,992,264	T/A	—	uncertain significance
rs36216231	11:107,992,306	T/A	—	benign
rs3741054	11:107,992,312	C/T	—	uncertain significance
rs113348145	11:107,992,319	C/G	—	benign
rs3741055	11:107,992,325	T/A	—	benign
rs747790910	11:107,992,329	C/T	—	uncertain significance
rs1305448140	11:107,992,334	A/G	—	pathogenic
rs120074142	11:107,992,335	T/C	missense variant	pathogenic
rs915506786	11:107,992,338	C/T	—	uncertain significance
rs1254889695	11:107,992,342	G/A	—	likely benign
rs774524997	11:107,992,343	C/G	—	uncertain significance
rs3741056	11:107,992,346	G/C	—	benign
rs767448873	11:107,992,347	C/T	—	uncertain significance
rs886047594	11:107,992,348	G/C	—	conflicting classifications of pathogenicity
rs1324457201	11:107,992,351	A/G	—	likely benign
rs2496515785	11:107,992,354	T/G	—	likely benign
rs775668624	11:107,992,355	C/T	—	likely benign
rs1317184933	11:107,992,357	G/T	—	likely benign
rs1437592865	11:107,992,360	C/T	—	likely benign
rs886047595	11:107,992,362	G/A	—	uncertain significance
rs928949283	11:107,992,364	G/A	—	uncertain significance
rs761018640	11:107,992,366	C/T	—	likely benign
rs764674778	11:107,992,367	G/A	—	uncertain significance
rs1333520451	11:107,992,369	C/G	—	likely benign
rs908924449	11:107,992,372	C/T	—	likely benign
rs1436280151	11:107,992,375	C/T	—	likely benign
rs757688736	11:107,992,376	C/T	—	uncertain significance
rs2135283693	11:107,992,378	C/T	—	likely benign
rs1196108614	11:107,992,381	C/T	—	likely benign
rs573208198	11:107,992,382	C/T	—	uncertain significance
rs765733417	11:107,992,384	C/G	—	likely benign
rs540416798	11:107,992,390	C/T	—	likely benign
rs77311724	11:107,992,393	G/C	—	conflicting classifications of pathogenicity
rs2496516251	11:107,992,403	C/T	—	likely pathogenic
rs2077152202	11:107,992,404	A/C	—	uncertain significance
rs543929400	11:107,992,411	C/A	—	uncertain significance
rs2077152282	11:107,992,413	G/C	—	likely benign
rs1324987267	11:107,992,415	G/T	—	likely benign
rs780504384	11:107,992,418	C/T	—	likely benign
rs2496516344	11:107,992,420	T/A	—	likely benign
rs1487406491	11:107,992,422	C/T	—	likely benign
rs2496516391	11:107,992,424	C/T	—	likely benign
rs112087419	11:107,998,126	G/A	intron variant	—
rs7938367	11:108,002,445	T/C	—	benign
rs1375239819	11:108,002,616	T/C	—	likely benign
rs1335784650	11:108,002,621	A/G	—	likely benign
rs2496570136	11:108,002,624	T/G	—	likely benign
rs2496570156	11:108,002,625	A/G	—	likely benign
rs772341273	11:108,002,631	C/T	—	likely benign
rs1277676635	11:108,002,633	G/A	—	likely pathogenic
rs1352801361	11:108,002,637	A/G	—	uncertain significance
rs1591360326	11:108,002,640	A/T	—	pathogenic
rs760794308	11:108,002,645	T/C	—	likely benign
rs764142914	11:108,002,646	G/T	—	uncertain significance
rs199952982	11:108,002,652	C/T	—	uncertain significance
rs2135326276	11:108,002,654	G/A	—	likely benign
rs1469248513	11:108,002,660	T/A	—	pathogenic
rs2077368830	11:108,002,665	C/G	—	pathogenic
rs1442033328	11:108,002,666	A/G	—	likely benign
rs142869776	11:108,002,674	C/T	—	likely benign
rs779908220	11:108,002,682	G/C	—	likely pathogenic
rs2496570808	11:108,002,698	G/A	—	likely benign
rs200633012	11:108,002,701	C/T	—	likely benign
rs2496580802	11:108,004,528	C/T	—	likely benign
rs1591361903	11:108,004,534	T/A	—	pathogenic
rs1401761046	11:108,004,535	G/A	—	likely benign
rs1465752694	11:108,004,539	C/T	—	likely benign
rs1591361919	11:108,004,544	C/G	—	pathogenic
rs2135334384	11:108,004,545	A/G	—	likely pathogenic
rs2135334412	11:108,004,552	G/T	—	likely benign
rs773917391	11:108,004,555	C/T	—	likely benign
rs2135334430	11:108,004,557	T/C	—	likely pathogenic
rs2077408592	11:108,004,559	G/C	—	uncertain significance
rs763375578	11:108,004,564	T/C	—	conflicting classifications of pathogenicity
rs545826042	11:108,004,566	C/T	—	uncertain significance
rs779565865	11:108,004,575	—	—	pathogenic
rs151080188	11:108,004,581	T/C	—	uncertain significance
rs1268424543	11:108,004,589	T/A	—	pathogenic
rs757128075	11:108,004,597	C/A	—	likely benign
rs147018814	11:108,004,600	C/T	—	likely benign
rs2135334620	11:108,004,603	T/G	—	likely benign
rs1246350270	11:108,004,606	C/G	—	likely benign
rs2496581644	11:108,004,615	A/C	—	likely benign
rs2135334679	11:108,004,618	C/T	—	likely benign
rs1425401797	11:108,004,626	T/G	—	uncertain significance
rs794727475	11:108,004,629	G/T	missense variant	pathogenic
rs2077410820	11:108,004,635	T/C	—	uncertain significance
rs1465674363	11:108,004,636	T/G	—	uncertain significance
rs758176568	11:108,004,639	A/C	—	likely benign
rs2496581880	11:108,004,643	C/T	—	pathogenic
rs779758622	11:108,004,644	A/C	—	likely pathogenic
rs747201837	11:108,004,651	C/T	—	likely benign
rs772848693	11:108,004,655	G/A	—	uncertain significance
rs2496582005	11:108,004,660	G/A	—	likely benign
rs2496582044	11:108,004,665	G/A	—	pathogenic
rs2135334862	11:108,004,666	T/A	—	pathogenic
rs2135334879	11:108,004,672	G/T	—	likely benign
rs770069051	11:108,004,675	A/G	—	likely benign
rs1185256164	11:108,004,677	T/C	—	likely benign
rs199918672	11:108,004,681	C/T	—	likely benign

Showing 100 of 516 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.