NDUFB8

NADH:ubiquinone oxidoreductase subunit B8

Summary

Predicted to enable NADH dehydrogenase (ubiquinone) activity. Predicted to be involved in mitochondrial electron transport, NADH to ubiquinone and proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrial inner membrane. Part of respiratory chain complex I. Implicated in nuclear type mitochondrial complex I deficiency 32. Biomarker of Alzheimer's disease and Parkinson's disease. [provided by Alliance of Genome Resources, Jul 2025]

Known Variants73 total

rsidPosition (GRCh37)AllelesClassClinVar
rs135315340210:102,283,598A/T—uncertain significance
rs76944915510:102,283,616C/T—uncertain significance
rs141929265310:102,283,639A/G—likely benign
rs105713607110:102,283,641C/T—uncertain significance
rs14503335510:102,283,642G/A—benign
rs76171278910:102,283,647G/A—uncertain significance
rs53625655110:102,283,682G/A—uncertain significance
rs55450887210:102,283,683G/A—uncertain significance
rs77915179310:102,283,690C/G—likely benign
rs11622679410:102,286,145C/T—benign
rs76307632110:102,286,170C/G—uncertain significance
rs14180124110:102,286,179C/T—benign
rs36778174110:102,286,180G/A—likely benign
rs144346317610:102,286,181T/C—uncertain significance
rs37156348710:102,286,182C/G—uncertain significance
rs155484325110:102,286,192G/C—pathogenic
rs76559157510:102,286,197T/C—uncertain significance
rs88933403810:102,286,204C/A—uncertain significance
rs77073554110:102,286,221C/T—uncertain significance
rs77580633010:102,286,222G/T—uncertain significance
rs75947244210:102,286,225G/C—likely benign
rs180222410:102,286,251A/T—benign
rs7415466610:102,286,256G/C—likely benign
rs20008091310:102,286,277C/T—uncertain significance
rs15069969810:102,286,278G/A—uncertain significance
rs75787346910:102,286,285G/A—likely benign
rs78081633910:102,286,322A/G—likely benign
rs18551413910:102,286,733G/A—benign
rs75557261610:102,286,735T/C—likely benign
rs75673974610:102,286,742C/G—uncertain significance
rs213371146210:102,286,750C/A—uncertain significance
rs14000741210:102,286,759C/T—likely benign
rs77984388310:102,286,760G/A—uncertain significance
rs37568106810:102,286,803G/A—uncertain significance
rs249292678410:102,286,806C/T—uncertain significance
rs19989324310:102,286,812G/A—uncertain significance
rs123901357810:102,286,817G/T—pathogenic
rs36846711710:102,286,845A/C—likely benign
rs249292739710:102,286,851T/G—likely benign
rs1119059110:102,287,778C/Tupstream gene variant—
rs180066210:102,289,078C/A—benign
rs147567159410:102,289,117G/A—likely benign
rs14562827710:102,289,129T/C—likely benign
rs37108472310:102,289,134C/T—likely benign
rs20180057710:102,289,150C/T—likely benign
rs155484343410:102,289,165A/G—pathogenic
rs37116695910:102,289,180T/G—uncertain significance
rs249293101110:102,289,191T/C—uncertain significance
rs138530229310:102,289,202G/A—likely benign
rs249293109510:102,289,223A/G—likely benign
rs14479045810:102,289,244G/A—likely benign
rs78107692010:102,289,262G/C—likely benign
rs11216406910:102,289,266A/G—uncertain significance
rs20198838910:102,289,267G/A—conflicting classifications of pathogenicity
rs185211341710:102,289,274G/A—likely benign
rs77495040910:102,289,279G/T—likely benign
rs18164331310:102,289,488T/C—benign
rs76245549210:102,289,518G/A—uncertain significance
rs141742232110:102,289,524C/G—uncertain significance
rs185211949110:102,289,531T/C—likely benign
rs213371488910:102,289,561C/G—uncertain significance
rs75508712810:102,289,574T/C—likely benign
rs14406857510:102,289,576G/T—likely benign
rs14644937310:102,289,577A/G—uncertain significance
rs20199661410:102,289,579T/C—benign
rs74747851710:102,289,580C/A—uncertain significance
rs121653727410:102,289,582C/T—likely benign
rs57023549610:102,289,584A/C—uncertain significance
rs13982771810:102,289,587C/G—uncertain significance
rs74882836010:102,289,588C/G—likely benign
rs14207353610:102,289,591G/C—uncertain significance
rs15113426510:102,289,597G/A—likely benign
rs1088350610:102,289,743C/G—benign

Gene information from NCBI Gene. Variant classifications from ClinVar.