ACADS

acyl-CoA dehydrogenase short chain

Summary

This gene encodes a tetrameric mitochondrial flavoprotein, which is a member of the acyl-CoA dehydrogenase family. This enzyme catalyzes the initial step of the mitochondrial fatty acid beta-oxidation pathway. Mutations in this gene have been associated with short-chain acyl-CoA dehydrogenase (SCAD) deficiency. Alternative splicing results in two variants which encode different isoforms. [provided by RefSeq, Oct 2014]

Known Variants372 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs2948149	12:121,162,854	T/A	—	—
rs116877397	12:121,162,996	C/T	upstream gene variant	—
rs3021337	12:121,163,261	C/T	—	benign
rs644065	12:121,163,340	G/T	—	benign
rs7303170	12:121,163,373	T/C	—	benign
rs2239760	12:121,163,518	C/A	—	benign
rs190307549	12:121,163,542	G/A	—	likely benign
rs567626964	12:121,163,633	C/G	—	uncertain significance
rs1291226969	12:121,163,689	A/G	—	pathogenic
rs990322697	12:121,163,690	T/C	—	pathogenic
rs1883065804	12:121,163,691	G/A	—	pathogenic
rs777704501	12:121,163,710	C/A	—	likely benign
rs1306073403	12:121,163,726	C/T	—	uncertain significance
rs542140065	12:121,163,728	C/G	—	uncertain significance
rs937772855	12:121,163,729	G/A	—	uncertain significance
rs1338857285	12:121,163,731	A/G	—	uncertain significance
rs2501151021	12:121,163,737	G/C	—	likely benign
rs758929346	12:121,163,742	C/A	—	likely benign
rs769227276	12:121,163,743	G/T	—	likely benign
rs777164036	12:121,163,749	G/A	—	likely benign
rs2501151107	12:121,163,750	A/C	—	likely benign
rs561966080	12:121,163,754	G/C	—	likely benign
rs11065230	12:121,164,652	C/T	—	benign
rs370622915	12:121,164,812	T/C	—	likely benign
rs2136939265	12:121,164,815	G/C	—	likely benign
rs749023748	12:121,164,823	C/A	—	uncertain significance
rs770646738	12:121,164,827	A/C	—	likely pathogenic
rs147494970	12:121,164,829	C/T	—	uncertain significance
rs745510897	12:121,164,840	A/G	—	uncertain significance
rs139981498	12:121,164,841	G/A	—	uncertain significance
rs774970155	12:121,164,847	G/T	—	uncertain significance
rs770222581	12:121,164,849	C/T	—	uncertain significance
rs773600043	12:121,164,850	G/A	—	uncertain significance
rs1206615610	12:121,164,861	A/C	—	uncertain significance
rs2501155338	12:121,164,862	C/T	—	uncertain significance
rs2501155385	12:121,164,868	A/G	—	uncertain significance
rs2501155391	12:121,164,869	C/T	—	likely benign
rs2501155398	12:121,164,870	C/T	—	pathogenic
rs2501155445	12:121,164,876	G/A	—	uncertain significance
rs2501155662	12:121,164,908	C/G	—	likely benign
rs121908003	12:121,164,918	C/T	missense variant	pathogenic
rs758012734	12:121,164,919	G/A	—	likely pathogenic
rs202193021	12:121,164,929	C/G	—	conflicting classifications of pathogenicity
rs1883110342	12:121,164,934	A/G	—	uncertain significance
rs1883110478	12:121,164,939	T/G	—	uncertain significance
rs749775207	12:121,164,943	T/C	—	uncertain significance
rs147442301	12:121,164,946	C/T	missense variant	pathogenic
rs1396303324	12:121,164,952	C/T	—	uncertain significance
rs371096896	12:121,164,971	A/T	—	uncertain significance
rs377388400	12:121,164,975	C/A	—	uncertain significance
rs148789330	12:121,164,985	C/T	—	uncertain significance
rs374124706	12:121,164,986	G/A	—	likely benign
rs753758429	12:121,164,990	C/T	—	likely pathogenic
rs1883114264	12:121,165,005	C/T	—	likely benign
rs34491494	12:121,170,339	C/G	—	—
rs575437	12:121,173,431	T/C	downstream gene variant	—
rs112669327	12:121,174,765	C/T	—	benign
rs201747310	12:121,174,771	G/A	—	likely benign
rs1212720647	12:121,174,787	A/G	—	likely pathogenic
rs1057516566	12:121,174,788	G/A	—	pathogenic
rs142476255	12:121,174,793	A/G	—	uncertain significance
rs2501187535	12:121,174,800	G/A	—	uncertain significance
rs370478896	12:121,174,803	C/T	—	conflicting classifications of pathogenicity
rs774801839	12:121,174,804	G/A	—	uncertain significance
rs375620690	12:121,174,806	G/A	—	likely benign
rs1064793612	12:121,174,816	—	—	pathogenic
rs1883464095	12:121,174,820	C/T	—	uncertain significance
rs2501187956	12:121,174,821	C/T	—	likely benign
rs746708682	12:121,174,822	A/C	—	uncertain significance
rs150507331	12:121,174,827	C/T	—	likely benign
rs751283667	12:121,174,828	G/A	—	uncertain significance
rs113118479	12:121,174,833	C/T	—	likely benign
rs2501188104	12:121,174,837	G/A	—	uncertain significance
rs1883465444	12:121,174,841	T/G	—	likely pathogenic
rs752181519	12:121,174,845	C/T	—	likely benign
rs121908005	12:121,174,846	G/A	missense variant	uncertain significance
rs121908004	12:121,174,852	G/T	missense variant	pathogenic
rs1358146160	12:121,174,855	C/A	—	uncertain significance
rs772604031	12:121,174,858	G/A	—	uncertain significance
rs2501188364	12:121,174,863	C/T	—	likely benign
rs768933897	12:121,174,864	C/T	—	likely benign
rs143169456	12:121,174,872	C/T	—	likely benign
rs1278196195	12:121,174,873	G/A	—	uncertain significance
rs769743719	12:121,174,876	A/G	—	uncertain significance
rs1883468810	12:121,174,879	G/A	—	uncertain significance
rs1001298373	12:121,174,880	C/T	missense variant	pathogenic
rs766216232	12:121,174,882	A/G	—	uncertain significance
rs767155955	12:121,174,891	A/T	missense variant	pathogenic
rs1035363801	12:121,174,892	T/A	—	uncertain significance
rs1057516385	12:121,174,893	—	—	pathogenic
rs61732144	12:121,174,897	C/T	missense variant	pathogenic
rs3914	12:121,174,899	T/C	—	benign
rs117356004	12:121,174,900	G/A	missense variant	pathogenic
rs387906951	12:121,174,901	G/A	missense variant	uncertain significance
rs144083614	12:121,174,905	C/T	—	conflicting classifications of pathogenicity
rs780571371	12:121,174,906	G/A	—	conflicting classifications of pathogenicity
rs747339462	12:121,174,910	C/T	missense variant	uncertain significance
rs768784437	12:121,174,914	C/T	—	uncertain significance
rs781528570	12:121,174,915	G/A	—	uncertain significance
rs1419823755	12:121,174,925	T/C	—	uncertain significance

Showing 100 of 372 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.