NDUFV1

NADH:ubiquinone oxidoreductase core subunit V1

Summary

The mitochondrial respiratory chain provides energy to cells via oxidative phosphorylation and consists of four membrane-bound electron-transporting protein complexes (I-IV) and an ATP synthase (complex V). This gene encodes a 51 kDa subunit of the NADH:ubiquinone oxidoreductase complex I; a large complex with at least 45 nuclear and mitochondrial encoded subunits that liberates electrons from NADH and channels them to ubiquinone. This subunit carries the NADH-binding site as well as flavin mononucleotide (FMN)- and Fe-S-biding sites. Defects in complex I are a common cause of mitochondrial dysfunction; a syndrome that occurs in approximately 1 in 10,000 live births. Mitochondrial complex I deficiency is linked to myopathies, encephalomyopathies, and neurodegenerative disorders such as Parkinson's disease and Leigh syndrome. Alternative splicing results in multiple transcript variants encoding distinct isoforms.[provided by RefSeq, Oct 2009]

Known Variants392 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7830994711:67,374,110C/Tcoding sequence variant—
rs251401311:67,374,156A/G—benign
rs138767603111:67,374,317G/T—uncertain significance
rs56314025811:67,374,365T/C—uncertain significance
rs37338380011:67,374,402T/C—conflicting classifications of pathogenicity
rs7349056811:67,374,410G/A—benign
rs94740612411:67,374,415A/G—uncertain significance
rs37394038511:67,374,431T/G—conflicting classifications of pathogenicity
rs88604858611:67,374,442T/A—uncertain significance
rs37280021211:67,374,488C/T—uncertain significance
rs95851045711:67,374,489G/A—uncertain significance
rs77514741911:67,374,496G/A—likely benign
rs74924778811:67,374,499C/T—likely benign
rs14835290511:67,374,518C/T—uncertain significance
rs249571148311:67,374,523A/G—likely benign
rs75306163811:67,374,530C/T—uncertain significance
rs106479715811:67,374,531G/C—uncertain significance
rs185481879211:67,374,535C/T—likely benign
rs55672334011:67,374,537G/C—likely benign
rs185481900311:67,374,538C/T—likely benign
rs249571155911:67,374,541C/T—likely benign
rs76454758211:67,374,544C/T—likely benign
rs138935749711:67,374,560C/G—likely benign
rs18740072611:67,374,562G/T—conflicting classifications of pathogenicity
rs187104311:67,374,581C/T—benign
rs1122785311:67,374,701G/A—benign
rs11139622311:67,375,654G/A—benign
rs20206253011:67,375,848T/G—likely benign
rs89595490611:67,375,851C/G—likely benign
rs249571513811:67,375,856T/C—likely benign
rs249571516311:67,375,866G/T—likely pathogenic
rs131935992011:67,375,869A/G—likely benign
rs36780427911:67,375,870G/A—uncertain significance
rs75466422511:67,375,874C/G—uncertain significance
rs37139173311:67,375,881A/G—likely benign
rs37467531611:67,375,885T/C—likely benign
rs144914301911:67,375,893C/T—likely benign
rs20172725211:67,375,895C/T—uncertain significance
rs135375893911:67,375,896G/A—likely benign
rs249571530511:67,375,908A/G—likely benign
rs86322411611:67,375,910A/Gmissense variantpathogenic
rs142760508111:67,375,912C/G—likely pathogenic
rs14150268811:67,375,913G/A—conflicting classifications of pathogenicity
rs249571534411:67,375,914G/A—likely benign
rs185485127211:67,375,925A/G—uncertain significance
rs185485133111:67,375,929G/A—likely benign
rs20086354911:67,375,932C/T—likely benign
rs1154000511:67,375,936C/A—uncertain significance
rs77259960011:67,375,937G/A—uncertain significance
rs1154001211:67,375,944C/T—conflicting classifications of pathogenicity
rs76125931911:67,375,947G/A—pathogenic
rs156522438311:67,375,950G/A—likely pathogenic
rs159110911011:67,375,956C/T—likely benign
rs249571547811:67,375,957A/G—likely benign
rs19996396611:67,375,961C/T—conflicting classifications of pathogenicity
rs36909344211:67,375,962C/T—likely benign
rs249571550711:67,375,964T/G—likely benign
rs121109913611:67,375,966A/G—likely benign
rs75813810211:67,375,969G/A—likely benign
rs105687922911:67,376,008C/T—likely benign
rs97469298911:67,376,012A/G—likely benign
rs77924098911:67,376,015C/T—likely benign
rs122079798611:67,376,017G/T—likely benign
rs92183394111:67,376,021A/G—likely pathogenic
rs19960972911:67,376,023G/T—likely benign
rs77363221611:67,376,029A/C—uncertain significance
rs20172768511:67,376,033T/Amissense variantuncertain significance
rs76805026111:67,376,042C/Tstop gainedpathogenic
rs249571576911:67,376,044A/T—likely benign
rs249571577711:67,376,053G/A—pathogenic
rs185485390711:67,376,056C/T—likely benign
rs148566664911:67,376,062A/G—likely benign
rs54392779811:67,376,065G/A—likely benign
rs19954348311:67,376,072C/T—conflicting classifications of pathogenicity
rs249571583611:67,376,074G/C—likely benign
rs140739398711:67,376,084C/T—uncertain significance
rs88604858711:67,376,085C/T—uncertain significance
rs75142485211:67,376,086C/T—likely benign
rs78085134011:67,376,087G/A—conflicting classifications of pathogenicity
rs134397332611:67,376,098G/A—likely benign
rs75506156711:67,376,113A/G—likely benign
rs77915075511:67,376,115C/T—conflicting classifications of pathogenicity
rs77383221211:67,376,116G/A—conflicting classifications of pathogenicity
rs13852682511:67,376,129C/T—uncertain significance
rs14386620311:67,376,130G/A—uncertain significance
rs77714722811:67,376,137C/T—likely benign
rs14724247611:67,376,150A/G—uncertain significance
rs249571619311:67,376,163G/A—pathogenic
rs76839954111:67,376,179G/T—uncertain significance
rs76724262211:67,376,189G/T—uncertain significance
rs20141493811:67,376,196G/A—uncertain significance
rs105752209611:67,376,200G/A—likely benign
rs249571632811:67,376,201T/C—likely benign
rs249571633111:67,376,202G/A—likely benign
rs76540509511:67,376,203T/G—likely benign
rs75288325211:67,376,204G/C—likely benign
rs18413635311:67,376,205G/A—conflicting classifications of pathogenicity
rs77801574511:67,376,207G/T—likely benign
rs37420098011:67,376,209C/T—likely benign
rs75758167611:67,376,210G/A—likely benign

Showing 100 of 392 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.