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

rsidPosition (GRCh37)AllelesClassClinVar
rs460410:135,176,091A/G—benign
rs105004010:135,176,258G/A—benign
rs75495778210:135,176,375C/G—uncertain significance
rs184898261810:135,176,378G/C—uncertain significance
rs249383260410:135,176,380C/T—uncertain significance
rs213343725510:135,176,386A/G—uncertain significance
rs74793322910:135,176,390G/A—likely benign
rs156480238010:135,176,393C/T—likely benign
rs126100912310:135,176,394T/C—uncertain significance
rs158987895610:135,176,398T/C—likely pathogenic
rs78137371810:135,176,399C/G—uncertain significance
rs155488553510:135,176,409A/G—conflicting classifications of pathogenicity
rs14554109010:135,176,411C/T—likely benign
rs92355449310:135,176,412G/A—uncertain significance
rs93359208110:135,176,413C/T—likely pathogenic
rs76972525510:135,176,414G/T—likely benign
rs77565014410:135,176,415G/Amissense variantpathogenic
rs136988072710:135,176,420C/T—likely benign
rs76919849510:135,176,423T/C—likely benign
rs56509008010:135,176,428T/Cmissense variantpathogenic
rs57563819910:135,176,430C/T—uncertain significance
rs77258579110:135,176,431G/A—uncertain significance
rs213343731410:135,176,438C/G—uncertain significance
rs77295806110:135,176,451G/A—likely benign
rs11465414710:135,176,454C/T—likely benign
rs213343732710:135,176,457A/G—likely benign
rs4550649110:135,176,473G/C—likely benign
rs19249781510:135,176,474C/T—likely benign
rs14928978410:135,176,558C/T—benign
rs7481900410:135,177,862A/G—benign
rs1074529410:135,178,087A/C—benign
rs213343871610:135,178,144T/G—likely benign
rs77372726310:135,178,148C/T—likely benign
rs37291049610:135,178,159C/T—uncertain significance
rs136468995610:135,178,165G/A—likely benign
rs213343872410:135,178,171G/A—likely benign
rs77061406110:135,178,173T/C—conflicting classifications of pathogenicity
rs77618663210:135,178,183G/T—likely benign
rs75906810510:135,178,185G/C—uncertain significance
rs122146999210:135,178,197A/C—uncertain significance
rs213343874210:135,178,201A/C—uncertain significance
rs184900670310:135,178,202C/T—uncertain significance
rs213343874610:135,178,205C/G—uncertain significance
rs94535715410:135,178,216T/C—likely benign
rs249383579110:135,178,224C/T—uncertain significance
rs76288554610:135,178,229G/A—conflicting classifications of pathogenicity
rs132983448110:135,178,232G/A—uncertain significance
rs127541659710:135,178,239A/G—uncertain significance
rs213343877010:135,178,243T/C—likely benign
rs156480306410:135,178,247A/G—likely benign
rs124235541410:135,178,248G/A—likely benign
rs92550500210:135,178,249A/C—likely benign
rs1181838910:135,178,319C/T—benign
rs6129028710:135,178,459C/G—benign
rs7416416310:135,179,216T/G—benign
rs5605573510:135,179,363G/C—benign
rs653759810:135,179,458G/C—benign
rs77419988810:135,179,460C/A—likely benign
rs37548784710:135,179,469A/G—likely benign
rs75402316710:135,179,472T/A—likely benign
rs106479695710:135,179,485T/C—uncertain significance
rs249383733910:135,179,491G/A—uncertain significance
rs20058479310:135,179,506G/A—pathogenic
rs14263918510:135,179,507C/G—conflicting classifications of pathogenicity
rs139166954210:135,179,510C/T—uncertain significance
rs184902282710:135,179,513C/A—uncertain significance
rs249383738710:135,179,526G/A—likely benign
rs213343972810:135,179,528T/C—uncertain significance
rs20162136410:135,179,531C/T—uncertain significance
rs131839149910:135,179,543C/T—likely pathogenic
rs76942927910:135,179,546A/G—pathogenic
rs77516048710:135,179,553G/A—likely benign
rs15100673910:135,179,555C/Tmissense variantpathogenic
rs213343975310:135,179,559T/C—likely benign
rs14114501610:135,179,576C/T—uncertain significance
rs76728311010:135,179,577A/G—likely benign
rs158988049710:135,179,582A/G—conflicting classifications of pathogenicity
rs249383747310:135,179,591T/C—uncertain significance
rs14309814210:135,179,658C/T—likely benign
rs13989697910:135,179,774T/C—likely benign
rs653759910:135,179,777C/T—benign
rs3421976310:135,179,831A/G—benign
rs789582910:135,179,888C/T—likely benign
rs7945988710:135,179,889G/A—likely benign
rs707077510:135,179,937C/T—likely benign
rs7611776210:135,180,098G/A—likely benign
rs11645782710:135,180,116C/T—likely benign
rs14403154710:135,180,185A/G—likely benign
rs120510554510:135,180,210A/C—likely benign
rs8003645810:135,180,217A/G—benign
rs99813332710:135,180,222A/C—likely benign
rs139029250810:135,180,252A/T—likely benign
rs11510460010:135,180,257T/C—benign
rs18646450610:135,180,277T/C—benign
rs57280709710:135,180,282C/A—likely benign
rs86817174710:135,180,302C/G—benign
rs104599912610:135,180,317G/A—benign
rs19121251410:135,180,324G/A—likely benign
rs56632067310:135,180,373C/T—likely benign
rs76052408610:135,180,374G/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.