ACADM

acyl-CoA dehydrogenase medium chain

Summary

This gene encodes the medium-chain specific (C4 to C12 straight chain) acyl-Coenzyme A dehydrogenase. The homotetramer enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Defects in this gene cause medium-chain acyl-CoA dehydrogenase deficiency, a disease characterized by hepatic dysfunction, fasting hypoglycemia, and encephalopathy, which can result in infantile death. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants660 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs1251078	1:76,189,488	C/G	upstream gene variant	—
rs1251077	1:76,189,745	C/G	—	benign
rs61797339	1:76,189,946	G/T	—	benign
rs114802787	1:76,190,037	C/G	—	benign
rs886046518	1:76,190,070	C/T	—	uncertain significance
rs114005461	1:76,190,072	G/A	—	likely benign
rs886046519	1:76,190,098	C/T	—	uncertain significance
rs1251076	1:76,190,111	T/C	—	likely benign
rs886046520	1:76,190,131	G/T	—	uncertain significance
rs886046521	1:76,190,169	A/G	—	uncertain significance
rs17848068	1:76,190,216	G/A	—	likely benign
rs886046522	1:76,190,304	C/T	—	uncertain significance
rs61124994	1:76,190,331	C/G	—	likely benign
rs567983446	1:76,190,381	A/G	—	uncertain significance
rs908019570	1:76,190,395	G/C	—	uncertain significance
rs753411141	1:76,190,423	A/T	—	uncertain significance
rs59932454	1:76,190,439	T/C	—	benign
rs763024539	1:76,190,444	T/C	—	uncertain significance
rs367734665	1:76,190,456	C/G	—	uncertain significance
rs1057516778	1:76,190,473	A/G	missense variant	pathogenic
rs1280148041	1:76,190,474	T/G	—	pathogenic
rs1553121887	1:76,190,475	G/C	—	pathogenic
rs752190688	1:76,190,478	A/C	—	likely benign
rs777389884	1:76,190,482	G/A	—	uncertain significance
rs201646499	1:76,190,483	G/T	—	uncertain significance
rs757845443	1:76,190,484	G/C	—	likely benign
rs1024056446	1:76,190,487	C/A	—	uncertain significance
rs372088389	1:76,190,489	G/A	—	uncertain significance
rs1455996178	1:76,190,491	C/T	—	likely pathogenic
rs906559903	1:76,190,493	A/G	—	likely benign
rs2100332723	1:76,190,496	C/A	—	pathogenic
rs1647021342	1:76,190,503	G/C	—	pathogenic
rs768596219	1:76,190,504	T/C	—	pathogenic
rs774531501	1:76,190,506	A/G	—	likely pathogenic
rs2525534617	1:76,190,507	G/C	—	uncertain significance
rs760526492	1:76,190,510	G/A	—	likely benign
rs770961707	1:76,190,511	G/A	—	likely benign
rs759413479	1:76,190,512	A/G	—	likely benign
rs375492495	1:76,190,513	G/A	—	likely benign
rs1214976179	1:76,190,516	C/T	—	likely benign
rs762704029	1:76,190,520	G/A	—	likely benign
rs1570843347	1:76,190,522	T/C	—	likely benign
rs116034618	1:76,190,568	T/C	—	benign
rs1251075	1:76,190,569	C/G	—	benign
rs1251074	1:76,190,690	C/A	—	benign
rs1890452	1:76,192,508	G/T	—	—
rs11161468	1:76,192,582	C/T	regulatory region variant	—
rs1890451	1:76,192,765	C/G	—	—
rs142795930	1:76,194,013	C/T	—	benign
rs201590881	1:76,194,049	C/T	—	likely benign
rs7524467	1:76,194,054	C/G	—	benign
rs2525551514	1:76,194,066	A/C	—	likely benign
rs2525551525	1:76,194,067	A/T	—	likely benign
rs549999477	1:76,194,069	A/G	—	likely benign
rs1647088602	1:76,194,070	A/G	—	likely benign
rs1647088634	1:76,194,073	G/A	—	likely benign
rs767962879	1:76,194,074	T/G	—	uncertain significance
rs1231281560	1:76,194,078	C/T	—	likely benign
rs756654520	1:76,194,081	T/A	—	uncertain significance
rs2100346922	1:76,194,082	A/G	—	likely benign
rs766727876	1:76,194,084	A/G	—	likely pathogenic
rs1349638092	1:76,194,085	G/C	—	likely pathogenic
rs2525551634	1:76,194,087	T/C	—	uncertain significance
rs1557440940	1:76,194,088	C/T	—	likely benign
rs562722132	1:76,194,089	C/T	—	likely benign
rs17848070	1:76,194,105	G/A	—	conflicting classifications of pathogenicity
rs1284745891	1:76,194,109	T/C	—	likely benign
rs1446893994	1:76,194,111	A/G	—	uncertain significance
rs762984318	1:76,194,112	T/C	—	conflicting classifications of pathogenicity
rs1358331245	1:76,194,116	A/C	—	likely benign
rs1325609596	1:76,194,120	C/A	—	pathogenic
rs1570851702	1:76,194,122	C/T	—	pathogenic
rs141772163	1:76,194,126	A/G	—	uncertain significance
rs2100347143	1:76,194,132	A/C	—	uncertain significance
rs2525551997	1:76,194,136	C/T	—	likely benign
rs778035007	1:76,194,138	A/G	—	uncertain significance
rs745793409	1:76,194,140	C/T	—	pathogenic
rs769906625	1:76,194,141	G/T	—	pathogenic
rs2100347177	1:76,194,142	A/G	—	uncertain significance
rs1047139742	1:76,194,145	A/G	—	likely benign
rs768452911	1:76,194,146	C/T	—	conflicting classifications of pathogenicity
rs529894272	1:76,194,147	G/A	—	pathogenic
rs2100347224	1:76,194,153	C/G	—	uncertain significance
rs2100347227	1:76,194,154	A/G	—	likely benign
rs2525552120	1:76,194,156	G/T	—	uncertain significance
rs1647090485	1:76,194,159	T/G	—	pathogenic
rs2100347303	1:76,194,163	A/G	—	likely benign
rs2100347323	1:76,194,167	A/C	—	uncertain significance
rs398123071	1:76,194,173	G/C	—	conflicting classifications of pathogenicity
rs113887538	1:76,194,174	G/T	—	pathogenic
rs202218503	1:76,194,183	C/A	—	likely pathogenic
rs1313316352	1:76,194,184	G/A	—	likely benign
rs754086774	1:76,194,190	A/G	—	likely benign
rs755405418	1:76,194,191	T/A	—	likely benign
rs875989868	1:76,194,287	A/G	—	benign
rs1146572	1:76,194,306	A/G	—	benign
rs61797340	1:76,196,912	C/G	—	—
rs7548695	1:76,198,033	A/G	—	benign
rs75795214	1:76,198,246	A/C	—	benign
rs74090724	1:76,198,309	T/C	—	benign

Showing 100 of 660 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.