ECHS1

enoyl-CoA hydratase, short chain 1

Summary

The protein encoded by this gene functions in the second step of the mitochondrial fatty acid beta-oxidation pathway. It catalyzes the hydration of 2-trans-enoyl-coenzyme A (CoA) intermediates to L-3-hydroxyacyl-CoAs. The gene product is a member of the hydratase/isomerase superfamily. It localizes to the mitochondrial matrix. Transcript variants utilizing alternative transcription initiation sites have been described in the literature. [provided by RefSeq, Jul 2008]

Known Variants295 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs4604	10:135,176,091	A/G	—	benign
rs1050040	10:135,176,258	G/A	—	benign
rs754957782	10:135,176,375	C/G	—	uncertain significance
rs1848982618	10:135,176,378	G/C	—	uncertain significance
rs2493832604	10:135,176,380	C/T	—	uncertain significance
rs2133437255	10:135,176,386	A/G	—	uncertain significance
rs747933229	10:135,176,390	G/A	—	likely benign
rs1564802380	10:135,176,393	C/T	—	likely benign
rs1261009123	10:135,176,394	T/C	—	uncertain significance
rs1589878956	10:135,176,398	T/C	—	likely pathogenic
rs781373718	10:135,176,399	C/G	—	uncertain significance
rs1554885535	10:135,176,409	A/G	—	conflicting classifications of pathogenicity
rs145541090	10:135,176,411	C/T	—	likely benign
rs923554493	10:135,176,412	G/A	—	uncertain significance
rs933592081	10:135,176,413	C/T	—	likely pathogenic
rs769725255	10:135,176,414	G/T	—	likely benign
rs775650144	10:135,176,415	G/A	missense variant	pathogenic
rs1369880727	10:135,176,420	C/T	—	likely benign
rs769198495	10:135,176,423	T/C	—	likely benign
rs565090080	10:135,176,428	T/C	missense variant	pathogenic
rs575638199	10:135,176,430	C/T	—	uncertain significance
rs772585791	10:135,176,431	G/A	—	uncertain significance
rs2133437314	10:135,176,438	C/G	—	uncertain significance
rs772958061	10:135,176,451	G/A	—	likely benign
rs114654147	10:135,176,454	C/T	—	likely benign
rs2133437327	10:135,176,457	A/G	—	likely benign
rs45506491	10:135,176,473	G/C	—	likely benign
rs192497815	10:135,176,474	C/T	—	likely benign
rs149289784	10:135,176,558	C/T	—	benign
rs74819004	10:135,177,862	A/G	—	benign
rs10745294	10:135,178,087	A/C	—	benign
rs2133438716	10:135,178,144	T/G	—	likely benign
rs773727263	10:135,178,148	C/T	—	likely benign
rs372910496	10:135,178,159	C/T	—	uncertain significance
rs1364689956	10:135,178,165	G/A	—	likely benign
rs2133438724	10:135,178,171	G/A	—	likely benign
rs770614061	10:135,178,173	T/C	—	conflicting classifications of pathogenicity
rs776186632	10:135,178,183	G/T	—	likely benign
rs759068105	10:135,178,185	G/C	—	uncertain significance
rs1221469992	10:135,178,197	A/C	—	uncertain significance
rs2133438742	10:135,178,201	A/C	—	uncertain significance
rs1849006703	10:135,178,202	C/T	—	uncertain significance
rs2133438746	10:135,178,205	C/G	—	uncertain significance
rs945357154	10:135,178,216	T/C	—	likely benign
rs2493835791	10:135,178,224	C/T	—	uncertain significance
rs762885546	10:135,178,229	G/A	—	conflicting classifications of pathogenicity
rs1329834481	10:135,178,232	G/A	—	uncertain significance
rs1275416597	10:135,178,239	A/G	—	uncertain significance
rs2133438770	10:135,178,243	T/C	—	likely benign
rs1564803064	10:135,178,247	A/G	—	likely benign
rs1242355414	10:135,178,248	G/A	—	likely benign
rs925505002	10:135,178,249	A/C	—	likely benign
rs11818389	10:135,178,319	C/T	—	benign
rs61290287	10:135,178,459	C/G	—	benign
rs74164163	10:135,179,216	T/G	—	benign
rs56055735	10:135,179,363	G/C	—	benign
rs6537598	10:135,179,458	G/C	—	benign
rs774199888	10:135,179,460	C/A	—	likely benign
rs375487847	10:135,179,469	A/G	—	likely benign
rs754023167	10:135,179,472	T/A	—	likely benign
rs1064796957	10:135,179,485	T/C	—	uncertain significance
rs2493837339	10:135,179,491	G/A	—	uncertain significance
rs200584793	10:135,179,506	G/A	—	pathogenic
rs142639185	10:135,179,507	C/G	—	conflicting classifications of pathogenicity
rs1391669542	10:135,179,510	C/T	—	uncertain significance
rs1849022827	10:135,179,513	C/A	—	uncertain significance
rs2493837387	10:135,179,526	G/A	—	likely benign
rs2133439728	10:135,179,528	T/C	—	uncertain significance
rs201621364	10:135,179,531	C/T	—	uncertain significance
rs1318391499	10:135,179,543	C/T	—	likely pathogenic
rs769429279	10:135,179,546	A/G	—	pathogenic
rs775160487	10:135,179,553	G/A	—	likely benign
rs151006739	10:135,179,555	C/T	missense variant	pathogenic
rs2133439753	10:135,179,559	T/C	—	likely benign
rs141145016	10:135,179,576	C/T	—	uncertain significance
rs767283110	10:135,179,577	A/G	—	likely benign
rs1589880497	10:135,179,582	A/G	—	conflicting classifications of pathogenicity
rs2493837473	10:135,179,591	T/C	—	uncertain significance
rs143098142	10:135,179,658	C/T	—	likely benign
rs139896979	10:135,179,774	T/C	—	likely benign
rs6537599	10:135,179,777	C/T	—	benign
rs34219763	10:135,179,831	A/G	—	benign
rs7895829	10:135,179,888	C/T	—	likely benign
rs79459887	10:135,179,889	G/A	—	likely benign
rs7070775	10:135,179,937	C/T	—	likely benign
rs76117762	10:135,180,098	G/A	—	likely benign
rs116457827	10:135,180,116	C/T	—	likely benign
rs144031547	10:135,180,185	A/G	—	likely benign
rs1205105545	10:135,180,210	A/C	—	likely benign
rs80036458	10:135,180,217	A/G	—	benign
rs998133327	10:135,180,222	A/C	—	likely benign
rs1390292508	10:135,180,252	A/T	—	likely benign
rs115104600	10:135,180,257	T/C	—	benign
rs186464506	10:135,180,277	T/C	—	benign
rs572807097	10:135,180,282	C/A	—	likely benign
rs868171747	10:135,180,302	C/G	—	benign
rs1045999126	10:135,180,317	G/A	—	benign
rs191212514	10:135,180,324	G/A	—	likely benign
rs566320673	10:135,180,373	C/T	—	likely benign
rs760524086	10:135,180,374	G/A	—	likely benign

Showing 100 of 295 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.