ACAD9

acyl-CoA dehydrogenase family member 9

Summary

This gene encodes a member of the acyl-CoA dehydrogenase family. Members of this family of proteins localize to the mitochondria and catalyze the rate-limiting step in the beta-oxidation of fatty acyl-CoA. The encoded protein is specifically active toward palmitoyl-CoA and long-chain unsaturated substrates. Mutations in this gene cause acyl-CoA dehydrogenase family member type 9 deficiency. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Known Variants818 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs539432207	3:128,598,176	C/T	—	likely benign
rs531128921	3:128,598,210	C/A	—	likely benign
rs789224	3:128,598,231	A/C	—	benign
rs183973851	3:128,598,367	C/T	—	conflicting classifications of pathogenicity
rs749695064	3:128,598,444	G/T	—	uncertain significance
rs754354849	3:128,598,490	C/G	regulatory region variant	—
rs959271889	3:128,598,524	C/T	—	likely benign
rs776598614	3:128,598,525	A/T	—	likely benign
rs773949927	3:128,598,535	A/T	missense variant	pathogenic
rs863225057	3:128,598,536	T/G	missense variant	pathogenic
rs2107636803	3:128,598,537	G/A	—	pathogenic
rs2529221146	3:128,598,538	A/G	—	uncertain significance
rs761385146	3:128,598,539	G/A	—	uncertain significance
rs766980679	3:128,598,540	C/G	—	uncertain significance
rs2529221169	3:128,598,543	C/T	—	likely benign
rs863223872	3:128,598,545	G/T	—	likely benign
rs148386594	3:128,598,546	C/T	—	likely benign
rs139710753	3:128,598,549	G/T	—	likely benign
rs879173625	3:128,598,551	T/C	—	uncertain significance
rs2529221215	3:128,598,552	C/T	—	likely benign
rs2107636832	3:128,598,556	C/T	—	likely benign
rs2107636836	3:128,598,561	C/T	—	likely benign
rs1278517422	3:128,598,563	C/T	—	uncertain significance
rs371199008	3:128,598,564	C/T	—	likely benign
rs944789519	3:128,598,567	G/T	—	likely benign
rs1288397044	3:128,598,573	G/C	—	likely benign
rs886057954	3:128,598,575	C/T	—	uncertain significance
rs745759890	3:128,598,577	C/T	—	likely pathogenic
rs886057955	3:128,598,578	G/C	—	uncertain significance
rs2529221312	3:128,598,579	T/C	—	likely benign
rs1559815802	3:128,598,582	C/T	—	likely benign
rs1314123126	3:128,598,585	C/T	—	likely benign
rs1375707877	3:128,598,588	G/T	—	likely benign
rs1364043818	3:128,598,589	G/T	—	uncertain significance
rs779957523	3:128,598,590	G/T	—	uncertain significance
rs1415792442	3:128,598,600	C/G	—	likely benign
rs2107636918	3:128,598,603	T/C	—	likely benign
rs1303369813	3:128,598,604	A/G	—	uncertain significance
rs374261746	3:128,598,606	C/T	—	likely benign
rs771599560	3:128,598,607	G/A	—	uncertain significance
rs564435799	3:128,598,609	G/C	—	likely benign
rs1203559610	3:128,598,611	A/G	—	conflicting classifications of pathogenicity
rs1264109871	3:128,598,612	C/T	—	likely benign
rs201209930	3:128,598,613	C/T	—	uncertain significance
rs2529221516	3:128,598,615	G/A	—	likely benign
rs2529221518	3:128,598,618	G/T	—	likely benign
rs1935032529	3:128,598,624	G/T	—	likely benign
rs368630371	3:128,598,625	C/T	—	uncertain significance
rs763269482	3:128,598,627	C/T	—	likely benign
rs376651813	3:128,598,634	C/T	—	uncertain significance
rs750501970	3:128,598,636	G/T	—	likely benign
rs756031841	3:128,598,639	T/A	—	likely benign
rs780117832	3:128,598,640	G/C	—	uncertain significance
rs936842682	3:128,598,643	C/T	—	pathogenic
rs754819333	3:128,598,651	C/T	—	likely benign
rs387907041	3:128,598,664	T/A	missense variant	pathogenic
rs1935034328	3:128,598,685	G/T	—	likely pathogenic
rs528508645	3:128,598,692	G/A	—	likely benign
rs772726904	3:128,598,694	G/C	—	likely benign
rs2529221758	3:128,598,696	C/T	—	likely benign
rs2529221764	3:128,598,697	C/T	—	likely benign
rs1195485176	3:128,598,702	C/T	—	likely benign
rs1559815993	3:128,598,703	G/A	—	likely benign
rs111805092	3:128,598,771	T/C	—	likely benign
rs150724622	3:128,603,246	A/C	—	likely benign
rs75748817	3:128,603,296	T/C	—	benign
rs773302706	3:128,603,484	T/C	—	likely benign
rs2529232544	3:128,603,487	T/C	—	likely benign
rs904560266	3:128,603,489	T/C	—	likely benign
rs863225058	3:128,603,494	A/G	—	pathogenic
rs149931573	3:128,603,497	A/T	—	uncertain significance
rs2107641227	3:128,603,507	C/T	—	likely benign
rs377484856	3:128,603,510	A/G	—	likely benign
rs1486453975	3:128,603,515	C/T	—	uncertain significance
rs2107641242	3:128,603,516	A/G	—	likely benign
rs996004696	3:128,603,532	G/T	—	pathogenic
rs144978857	3:128,603,540	T/C	—	conflicting classifications of pathogenicity
rs1400553630	3:128,603,545	T/C	—	uncertain significance
rs765060373	3:128,603,550	C/T	—	pathogenic
rs752716687	3:128,603,551	A/G	—	uncertain significance
rs1171854557	3:128,603,552	G/A	—	likely benign
rs758120770	3:128,603,555	C/T	—	likely benign
rs777679870	3:128,603,556	T/C	—	likely benign
rs371244300	3:128,603,558	G/A	—	likely benign
rs557401373	3:128,603,562	C/A	—	uncertain significance
rs745405919	3:128,603,564	C/T	—	likely benign
rs779258809	3:128,603,565	G/A	—	uncertain significance
rs1935198594	3:128,603,566	T/A	—	uncertain significance
rs2529232838	3:128,603,582	T/C	—	likely benign
rs772314192	3:128,603,588	G/A	—	uncertain significance
rs1935198953	3:128,603,592	A/G	—	uncertain significance
rs2529232889	3:128,603,600	T/C	—	likely benign
rs771313668	3:128,603,609	C/T	—	likely benign
rs140606723	3:128,603,641	G/A	—	likely benign
rs184937941	3:128,609,702	T/G	intron variant	—
rs1683811	3:128,612,113	A/C	—	benign
rs6806468	3:128,612,229	A/T	—	benign
rs187382716	3:128,612,378	C/T	—	likely benign
rs2529251278	3:128,612,381	G/T	—	likely benign
rs771458840	3:128,612,382	A/T	—	likely benign

Showing 100 of 818 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.