ETFB

electron transfer flavoprotein subunit beta

Summary

This gene encodes electron-transfer-flavoprotein, beta polypeptide, which shuttles electrons between primary flavoprotein dehydrogenases involved in mitochondrial fatty acid and amino acid catabolism and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. The gene deficiencies have been implicated in type II glutaricaciduria. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants282 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2873587919:51,848,195G/A—benign
rs1297952619:51,848,260A/T—benign
rs212356715119:51,848,471C/A—likely benign
rs14517388419:51,848,472C/T—uncertain significance
rs37052284419:51,848,473G/A—uncertain significance
rs74645012519:51,848,486C/T—likely benign
rs251414069419:51,848,497C/T—uncertain significance
rs124251163119:51,848,501G/A—likely benign
rs39812367719:51,848,505T/G—uncertain significance
rs147585269319:51,848,507A/G—likely benign
rs251414075119:51,848,518C/T—uncertain significance
rs14912921419:51,848,524C/T—conflicting classifications of pathogenicity
rs74983757319:51,848,525G/A—likely benign
rs37532645019:51,848,527C/T—uncertain significance
rs76001247219:51,848,528G/A—likely benign
rs76966878119:51,848,531C/T—likely benign
rs76171446519:51,848,536G/A—uncertain significance
rs76525541819:51,848,543C/T—likely benign
rs20087736319:51,848,546G/T—likely benign
rs212356752519:51,848,557T/A—uncertain significance
rs159983743319:51,848,564A/G—likely benign
rs13931513619:51,848,567G/A—likely benign
rs78082889119:51,848,570C/T—likely benign
rs251414100019:51,848,579C/G—likely benign
rs77156092719:51,848,581G/A—likely benign
rs119562460919:51,848,585C/A—likely benign
rs87989947219:51,848,597C/T—likely benign
rs76090732719:51,848,601G/T—uncertain significance
rs159983749619:51,848,602G/A—uncertain significance
rs1155909419:51,848,611C/T—uncertain significance
rs53379410719:51,848,615G/A—benign
rs251414120219:51,848,622T/C—uncertain significance
rs92067204119:51,848,635T/C—uncertain significance
rs251414122219:51,848,638G/A—uncertain significance
rs251414122619:51,848,641C/T—likely benign
rs251414122719:51,848,642A/G—likely benign
rs98386006819:51,848,643T/A—likely benign
rs134987486619:51,848,644G/A—likely benign
rs251414123819:51,848,645G/A—likely benign
rs75038174319:51,848,649G/A—likely benign
rs122874106719:51,848,650C/G—likely benign
rs198574843319:51,848,653T/C—likely benign
rs810723219:51,848,824A/G—benign
rs810723519:51,848,834A/G—benign
rs1298125419:51,849,927G/C—benign
rs6734040019:51,849,963C/T—benign
rs251414383919:51,850,135C/T—likely benign
rs77921999519:51,850,136C/T—likely benign
rs37258615319:51,850,137G/T—likely benign
rs198579980519:51,850,141G/C—likely benign
rs198580006019:51,850,145G/C—likely benign
rs75863986419:51,850,146G/A—likely benign
rs53998932719:51,850,148G/A—uncertain significance
rs212357214119:51,850,153C/G—pathogenic
rs74741170419:51,850,162T/C—uncertain significance
rs251414389319:51,850,163G/C—likely benign
rs37667975719:51,850,169C/T—likely benign
rs36913810719:51,850,170G/A—uncertain significance
rs20018607819:51,850,174C/T—conflicting classifications of pathogenicity
rs74816244419:51,850,175G/A—likely benign
rs76995199819:51,850,179C/T—uncertain significance
rs77297694819:51,850,180G/A—conflicting classifications of pathogenicity
rs37606519819:51,850,186C/T—conflicting classifications of pathogenicity
rs57012616919:51,850,187G/T—uncertain significance
rs116796381719:51,850,188T/C—uncertain significance
rs75946250319:51,850,198G/A—likely benign
rs144446753319:51,850,199G/C—uncertain significance
rs14844322019:51,850,210C/T—uncertain significance
rs251414410319:51,850,220C/T—likely benign
rs14191742319:51,850,230C/T—likely benign
rs75553943719:51,850,231G/C—uncertain significance
rs93312989719:51,850,232C/G—likely benign
rs251414415919:51,850,247C/G—likely benign
rs14061469519:51,850,252C/G—uncertain significance
rs15063673319:51,850,253G/C—uncertain significance
rs101164350919:51,850,259C/T—likely benign
rs10489467719:51,850,260C/Tmissense variantpathogenic
rs14804581319:51,850,261G/A—conflicting classifications of pathogenicity
rs212357272119:51,850,271C/T—likely benign
rs76584601819:51,850,280C/T—likely benign
rs136733565919:51,850,289C/T—likely benign
rs113042619:51,850,290G/Amissense variantbenign
rs138176298919:51,850,295C/T—likely benign
rs251414432319:51,850,297G/A—pathogenic
rs7473590819:51,850,299G/A—conflicting classifications of pathogenicity
rs251414434119:51,850,301G/T—likely benign
rs76035158719:51,850,303C/T—uncertain significance
rs14464066119:51,850,304G/A—benign
rs251414436819:51,850,313C/T—likely pathogenic
rs203524699519:51,850,316G/A—likely benign
rs251414439119:51,850,320G/A—conflicting classifications of pathogenicity
rs75677032819:51,850,326G/A—likely benign
rs75209583119:51,850,330A/G—likely benign
rs75529115619:51,850,332G/C—likely benign
rs811268719:51,850,402C/T—benign
rs11585551719:51,850,448G/C—likely benign
rs811278519:51,850,485T/C—benign
rs811197319:51,850,506C/T—benign
rs378662919:51,850,597C/T—benign
rs378662819:51,850,633G/A—benign

Showing 100 of 282 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.