ETFDH

electron transfer flavoprotein dehydrogenase

Summary

This gene encodes a component of the electron-transfer system in mitochondria and is essential for electron transfer from a number of mitochondrial flavin-containing dehydrogenases to the main respiratory chain. Mutations in this gene are associated with glutaric acidemia. Alternatively spliced transcript variants that encode distinct isoforms have been observed. [provided by RefSeq, Aug 2013]

Known Variants746 total

rsidPosition (GRCh37)AllelesClassClinVar
rs45962024:159,592,948G/T—benign
rs1124689264:159,593,023G/C—likely benign
rs782015644:159,593,183A/G—likely benign
rs1126453054:159,593,199A/G—likely benign
rs8860591924:159,593,294G/A—uncertain significance
rs1139814614:159,593,370G/A—likely benign
rs8860591934:159,593,435A/G—uncertain significance
rs1836093684:159,593,512G/A—uncertain significance
rs12961221154:159,593,532C/G—uncertain significance
rs10012211434:159,593,534A/G—uncertain significance
rs3776794394:159,593,548C/T—uncertain significance
rs1219649534:159,593,610T/Cmissense variantpathogenic
rs13408621754:159,593,611G/C—pathogenic
rs21503005324:159,593,614G/C—likely benign
rs3737760534:159,593,620G/A—conflicting classifications of pathogenicity
rs24790572064:159,593,623A/G—likely benign
rs12325015514:159,593,629G/A—likely benign
rs7960519564:159,593,630C/G—likely benign
rs24790572494:159,593,632G/T—likely benign
rs11752669684:159,593,633T/A—uncertain significance
rs7469038714:159,593,635C/T—likely benign
rs9515876184:159,593,640T/C—uncertain significance
rs11728872734:159,593,642G/C—pathogenic
rs24790573154:159,593,643G/A—likely pathogenic
rs13735970924:159,593,647G/C—pathogenic
rs14360160694:159,593,649G/A—likely benign
rs24790573554:159,593,653A/G—likely benign
rs17735988494:159,593,658C/A—likely benign
rs15612331004:159,593,659G/A—likely benign
rs754437064:159,593,699C/A—likely benign
rs1126497204:159,593,788T/A—likely benign
rs781851714:159,593,908A/G—likely benign
rs11730943694:159,601,599T/C—likely benign
rs9549373094:159,601,601T/A—likely benign
rs5670852564:159,601,603C/T—likely benign
rs5298326304:159,601,604G/A—likely benign
rs24790756164:159,601,608T/C—likely benign
rs21503043184:159,601,611T/C—likely benign
rs21503043204:159,601,612T/C—likely benign
rs7539991384:159,601,613G/A—likely benign
rs24790756344:159,601,615G/A—likely benign
rs15540312964:159,601,616C/A—uncertain significance
rs2012544674:159,601,620A/G—likely benign
rs7469665424:159,601,622A/G—likely benign
rs17738241324:159,601,626G/C—uncertain significance
rs7684427874:159,601,627T/A—uncertain significance
rs17738243544:159,601,630T/A—uncertain significance
rs24790759084:159,601,635T/C—likely benign
rs24790759154:159,601,638C/T—likely benign
rs7809918324:159,601,645A/T—uncertain significance
rs5666057804:159,601,647T/C—conflicting classifications of pathogenicity
rs24790760054:159,601,662A/G—likely benign
rs5370388504:159,601,663C/T—pathogenic
rs10538650224:159,601,668A/G—likely benign
rs13403264484:159,601,672G/A—uncertain significance
rs17738256954:159,601,674T/C—likely benign
rs1821440744:159,601,675A/G—conflicting classifications of pathogenicity
rs115592904:159,601,676C/Tmissense variantbenign
rs11691971814:159,601,682G/A—pathogenic
rs17738265254:159,601,684T/A—uncertain significance
rs24790761274:159,601,688C/A—likely pathogenic
rs1407319394:159,601,692T/G—likely benign
rs24790761564:159,601,698T/C—likely benign
rs21503043804:159,601,701G/A—likely benign
rs7736684574:159,601,705C/T—pathogenic
rs1501050014:159,601,706G/A—conflicting classifications of pathogenicity
rs17738277944:159,601,709T/C—uncertain significance
rs24790762144:159,601,713T/C—likely benign
rs9249624564:159,601,723A/G—uncertain significance
rs2018235914:159,601,726A/G—conflicting classifications of pathogenicity
rs9376462494:159,601,732C/T—uncertain significance
rs24790763034:159,601,734C/T—likely benign
rs1872485904:159,601,735C/T—pathogenic
rs5343884964:159,601,736G/T—likely pathogenic
rs21503044014:159,601,738G/A—uncertain significance
rs24790763254:159,601,739A/T—uncertain significance
rs8788530064:159,601,741A/Tstop gainedpathogenic
rs17738292444:159,601,748A/G—uncertain significance
rs17738294954:159,601,753T/C—likely pathogenic
rs12322140034:159,601,754G/A—likely pathogenic
rs9492491624:159,601,755G/A—pathogenic
rs14731885244:159,601,756G/T—pathogenic
rs7960519614:159,601,760G/C—pathogenic
rs24790764164:159,601,761T/C—pathogenic
rs7811512664:159,601,762A/G—likely benign
rs21503044374:159,601,774G/C—likely benign
rs7781546894:159,601,777T/A—likely benign
rs1442838434:159,601,778A/G—likely benign
rs21503044434:159,601,779C/G—likely benign
rs45461974:159,601,857T/C—likely benign
rs623511984:159,603,110G/A—likely benign
rs17738762554:159,603,327A/G—likely benign
rs13801313484:159,603,328G/T—likely benign
rs7768166644:159,603,340C/T—likely benign
rs21503051434:159,603,342C/T—likely benign
rs24790800044:159,603,343C/T—likely benign
rs14850383064:159,603,345A/T—likely pathogenic
rs24790800114:159,603,346G/A—likely pathogenic
rs24790800224:159,603,351G/A—likely benign
rs21503051474:159,603,354C/T—likely benign

Showing 100 of 746 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.