NDUFAF1

NADH:ubiquinone oxidoreductase complex assembly factor 1

Summary

This gene encodes a complex I assembly factor protein. Complex I (NADH-ubiquinone oxidoreductase) catalyzes the transfer of electrons from NADH to ubiquinone (coenzyme Q) in the first step of the mitochondrial respiratory chain, resulting in the translocation of protons across the inner mitochondrial membrane. The encoded protein is required for assembly of complex I, and mutations in this gene are a cause of mitochondrial complex I deficiency. Alternatively spliced transcript variants have been observed for this gene, and a pseudogene of this gene is located on the long arm of chromosome 19. [provided by RefSeq, Dec 2011]

Known Variants145 total

rsidPosition (GRCh37)AllelesClassClinVar
rs2870357015:41,679,492G/A—benign
rs76617664415:41,679,654C/T—likely benign
rs14892951715:41,679,665G/A—uncertain significance
rs20039488815:41,679,668C/T—uncertain significance
rs36961391915:41,679,677T/C—uncertain significance
rs1290070215:41,679,685G/C—benign
rs74608281415:41,679,700T/G—conflicting classifications of pathogenicity
rs19959963315:41,679,701G/C—benign
rs20119104415:41,679,707G/T—likely benign
rs7340710915:41,679,717C/T—benign
rs77026943415:41,679,719C/T—uncertain significance
rs56083882815:41,679,720G/A—benign
rs75927462015:41,679,725T/A—uncertain significance
rs115801192715:41,679,726A/G—likely benign
rs14140881415:41,679,732T/C—uncertain significance
rs37578394515:41,679,733A/G—uncertain significance
rs255017223415:41,679,751C/A—uncertain significance
rs255017224715:41,679,756C/T—uncertain significance
rs75016411615:41,679,761T/C—uncertain significance
rs14512231515:41,679,771G/A—conflicting classifications of pathogenicity
rs214090703915:41,679,790A/G—uncertain significance
rs159562924015:41,680,645C/A—uncertain significance
rs77130918415:41,680,677C/T—uncertain significance
rs36935778415:41,680,678G/A—uncertain significance
rs76127508515:41,680,689C/T—uncertain significance
rs76520313515:41,680,690G/C—uncertain significance
rs20175636315:41,680,695G/A—uncertain significance
rs128520279915:41,680,712A/G—likely benign
rs13938347515:41,680,739T/A—benign
rs36769836715:41,686,850A/G—likely benign
rs11342805215:41,686,894C/T—benign
rs38790695715:41,687,058T/Cmissense variantpathogenic
rs205036235315:41,687,060G/A—likely benign
rs53235997115:41,687,077G/C—likely benign
rs37634457515:41,687,083C/T—uncertain significance
rs78088382915:41,687,085C/T—uncertain significance
rs14150472115:41,687,086G/A—uncertain significance
rs255017741315:41,687,090G/A—likely benign
rs76937184415:41,687,095T/C—uncertain significance
rs77093919915:41,687,104T/C—uncertain significance
rs15053939915:41,687,108C/T—conflicting classifications of pathogenicity
rs75943247515:41,687,115T/C—uncertain significance
rs13841925415:41,687,118G/A—uncertain significance
rs14925781115:41,687,124T/C—uncertain significance
rs255017747315:41,687,138G/A—likely benign
rs214091904415:41,687,144C/A—uncertain significance
rs205036456615:41,687,158T/C—uncertain significance
rs255017750715:41,687,160C/G—uncertain significance
rs78040149315:41,687,166C/Tmissense variantpathogenic
rs86601500915:41,687,173C/T—uncertain significance
rs75578743415:41,687,175C/G—uncertain significance
rs14443772415:41,687,178C/T—uncertain significance
rs77033360915:41,687,184C/T—uncertain significance
rs38790695815:41,687,185G/Amissense variantpathogenic
rs205036536515:41,687,188G/C—uncertain significance
rs148790398715:41,687,194G/T—uncertain significance
rs38790695615:41,687,197T/Gmissense variantpathogenic
rs137829734715:41,687,215C/T—uncertain significance
rs55439234115:41,687,230T/G—likely benign
rs37397615915:41,687,234A/G—likely benign
rs7487041715:41,687,543T/A—benign
rs11160239015:41,687,903G/A——
rs3497900115:41,688,700T/C—likely benign
rs37238504515:41,688,705T/C—uncertain significance
rs214092248715:41,688,709A/C—uncertain significance
rs76298193115:41,688,715C/T—likely benign
rs88605114315:41,688,720T/C—uncertain significance
rs57643016515:41,688,722C/T—conflicting classifications of pathogenicity
rs106479376715:41,688,726——pathogenic
rs3522787515:41,688,732T/C—likely benign
rs37338487915:41,688,736G/C—uncertain significance
rs14051525415:41,688,746G/A—uncertain significance
rs57170102815:41,688,801T/C—uncertain significance
rs76484957815:41,688,829C/T—uncertain significance
rs136079139815:41,688,830G/A—uncertain significance
rs54278142515:41,688,842G/A—uncertain significance
rs255017935615:41,688,850C/T—uncertain significance
rs255017937015:41,688,861A/C—uncertain significance
rs90496183115:41,688,873C/T—uncertain significance
rs100107981115:41,688,876G/A—uncertain significance
rs15128613115:41,688,890A/G—uncertain significance
rs20129269815:41,688,896G/C—uncertain significance
rs19096425015:41,688,919C/G—likely benign
rs77604046415:41,688,934C/T—likely benign
rs77332011415:41,688,935G/C—uncertain significance
rs128970393915:41,688,942T/G—likely benign
rs76906374115:41,688,946A/G—likely benign
rs20021106415:41,688,949A/C—uncertain significance
rs76608138415:41,688,965T/C—uncertain significance
rs75114627315:41,688,968A/C—uncertain significance
rs75905765815:41,688,974C/T—uncertain significance
rs75267402515:41,688,990C/T—uncertain significance
rs75593793615:41,688,996C/T—uncertain significance
rs14999185815:41,688,999T/C—uncertain significance
rs14654001515:41,689,009A/T—uncertain significance
rs36762348715:41,689,012G/A—likely benign
rs140614717015:41,689,020C/G—uncertain significance
rs91618695715:41,689,040G/C—uncertain significance
rs20047279915:41,689,043G/C—conflicting classifications of pathogenicity
rs125778209615:41,689,050C/G—uncertain significance

Showing 100 of 145 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.