ETFA

electron transfer flavoprotein subunit alpha

Summary

ETFA participates in catalyzing the initial step of the mitochondrial fatty acid beta-oxidation. It shuttles electrons between primary flavoprotein dehydrogenases and the membrane-bound electron transfer flavoprotein ubiquinone oxidoreductase. Defects in electron-transfer-flavoprotein have been implicated in type II glutaricaciduria in which multiple acyl-CoA dehydrogenase deficiencies result in large excretion of glutaric, lactic, ethylmalonic, butyric, isobutyric, 2-methyl-butyric, and isovaleric acids. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants408 total

rsidPosition (GRCh37)AllelesClassClinVar
rs8029231915:76,508,632C/T—benign
rs180355015:76,508,684T/A—benign
rs14012155915:76,508,801C/T—uncertain significance
rs88605148715:76,508,845G/C—uncertain significance
rs18398196415:76,508,854G/A—uncertain significance
rs20142463215:76,508,901C/A—uncertain significance
rs75920308115:76,508,908T/C—uncertain significance
rs159618384515:76,508,914A/G—likely benign
rs76503924315:76,508,917T/G—likely benign
rs75224688915:76,508,921A/C—likely benign
rs90863603515:76,508,922G/T—uncertain significance
rs120370375315:76,508,928T/C—uncertain significance
rs203889840015:76,508,929C/T—uncertain significance
rs135166299115:76,508,930A/G—likely benign
rs122588734115:76,508,935C/T—uncertain significance
rs75788542015:76,508,939C/G—uncertain significance
rs77774297715:76,508,942C/T—likely benign
rs122389095915:76,508,948A/G—likely benign
rs254295465115:76,508,956A/C—likely benign
rs57081894015:76,508,958G/C—likely benign
rs14540089115:76,517,894C/T—benign
rs1696800215:76,517,930G/A—likely benign
rs1015229015:76,517,982T/C—likely benign
rs78117434215:76,518,173T/C—likely benign
rs136955368415:76,518,176C/G—likely benign
rs121629492815:76,518,182C/T—likely benign
rs183056500715:76,518,193A/G—likely benign
rs132357549415:76,518,198A/G—likely benign
rs75019228515:76,518,202T/C—likely benign
rs156719583215:76,518,207C/A—uncertain significance
rs214210803815:76,518,208T/G—likely benign
rs125382804615:76,518,211T/G—likely benign
rs203899894315:76,518,214A/G—likely benign
rs36875788115:76,518,219C/T—uncertain significance
rs126382060615:76,518,221G/A—uncertain significance
rs37259100115:76,518,222C/A—uncertain significance
rs254296357715:76,518,226T/C—likely benign
rs37389601015:76,518,234T/C—uncertain significance
rs76892467315:76,518,236G/A—uncertain significance
rs254296361715:76,518,239G/A—uncertain significance
rs214210806115:76,518,244T/C—likely benign
rs214210807515:76,518,262C/G—likely benign
rs77270186415:76,518,273G/A—uncertain significance
rs214210808715:76,518,274T/C—likely benign
rs103761506315:76,518,275G/A—likely benign
rs214210809115:76,518,276A/G—likely benign
rs77389493715:76,518,279T/C—likely benign
rs128978224215:76,518,280A/G—likely benign
rs203899958715:76,518,284A/T—likely benign
rs139873341115:76,518,288A/C—likely benign
rs14388737215:76,518,539A/T—likely benign
rs7640334215:76,523,620C/A—benign
rs254296962515:76,523,659C/T—likely benign
rs214146368915:76,523,660T/A—likely benign
rs203906408115:76,523,664G/A—conflicting classifications of pathogenicity
rs37316159715:76,523,665T/C—likely benign
rs77684799715:76,523,666A/G—likely benign
rs75388265315:76,523,667C/G—likely benign
rs74631178215:76,523,668A/C—uncertain significance
rs37725905815:76,523,669A/G—conflicting classifications of pathogenicity
rs135981732715:76,523,671T/C—uncertain significance
rs77880782415:76,523,680G/T—uncertain significance
rs118456655915:76,523,685T/G—uncertain significance
rs214146375515:76,523,689C/T—likely benign
rs254296968215:76,523,690C/G—uncertain significance
rs254296969215:76,523,692A/C—likely benign
rs76697720615:76,523,718T/G—uncertain significance
rs77271728415:76,523,719T/C—likely benign
rs37114927915:76,523,725A/G—likely benign
rs14120014515:76,523,730T/G—conflicting classifications of pathogenicity
rs214146379715:76,523,734A/G—likely benign
rs75484187315:76,523,737T/C—likely benign
rs254296976215:76,523,741T/C—likely pathogenic
rs254296977015:76,523,744A/T—likely benign
rs254296977315:76,523,746T/C—likely benign
rs254296977415:76,523,747A/C—likely benign
rs75291829615:76,523,751G/A—likely benign
rs117651008415:76,523,755T/C—likely benign
rs6203023415:76,523,771T/C—benign
rs14434158515:76,523,824T/A—likely benign
rs18405387415:76,524,040A/G—likely benign
rs245605715:76,526,912C/G—benign
rs7738726015:76,537,476C/Tintron variant—
rs7763390015:76,538,459G/Cintron variant—
rs191481615:76,546,933G/T——
rs3489371515:76,560,265G/Aintron variant—
rs13909748715:76,566,526T/C—likely benign
rs77667857215:76,566,740T/C—likely benign
rs214151621515:76,566,744A/T—likely benign
rs75941240715:76,566,745A/T—likely benign
rs214151623015:76,566,756T/G—likely benign
rs75254415215:76,566,758C/T—uncertain significance
rs254301110415:76,566,759T/C—likely benign
rs76325562915:76,566,764T/A—uncertain significance
rs76447879715:76,566,771C/T—likely benign
rs11945897015:76,566,772G/Amissense variantpathogenic
rs75740912115:76,566,776G/A—pathogenic
rs37387196715:76,566,783T/C—likely benign
rs254301117415:76,566,789G/A—likely benign
rs89741597015:76,566,793T/C—uncertain significance

Showing 100 of 408 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.