NUBPL

NUBP iron-sulfur cluster assembly factor, mitochondrial

Summary

This gene encodes a member of the Mrp/NBP35 ATP-binding proteins family. The encoded protein is required for the assembly of the respiratory chain NADH dehydrogenase (complex I), an oligomeric enzymatic complex located in the inner mitochondrial membrane. Mutations in this gene cause mitochondrial complex I deficiency. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2014]

Known Variants225 total

rsidPosition (GRCh37)AllelesClassClinVar
rs7404087014:32,030,395T/G—benign
rs88605044614:32,030,607G/A—uncertain significance
rs74994238514:32,030,621A/G—uncertain significance
rs75476939314:32,030,633A/G—conflicting classifications of pathogenicity
rs20107330714:32,030,639C/T—conflicting classifications of pathogenicity
rs4546839514:32,030,645T/C—conflicting classifications of pathogenicity
rs56743769214:32,030,647T/C—conflicting classifications of pathogenicity
rs76574755514:32,030,649G/C—conflicting classifications of pathogenicity
rs76602324814:32,030,662G/A—uncertain significance
rs75121918914:32,030,670C/T—uncertain significance
rs119888726314:32,030,680G/A—uncertain significance
rs88605044714:32,030,691C/T—uncertain significance
rs37158269514:32,030,706G/A—uncertain significance
rs55606006014:32,030,716C/T—conflicting classifications of pathogenicity
rs203327831814:32,030,719T/C—uncertain significance
rs7753999014:32,030,722G/T—conflicting classifications of pathogenicity
rs203327918214:32,030,731G/A—uncertain significance
rs77374718314:32,030,735G/A—uncertain significance
rs6176305514:32,030,750C/A—likely benign
rs250234462014:32,030,760G/A—likely benign
rs36761278414:32,030,767C/T—likely benign
rs7404087214:32,030,970G/C—likely benign
rs14776279814:32,031,171G/A—likely benign
rs7770991914:32,031,245C/T—benign
rs88605044814:32,031,263A/T—uncertain significance
rs203329875014:32,031,270A/G—uncertain significance
rs77358946314:32,031,282C/T—likely benign
rs155531084114:32,031,300A/G—likely benign
rs75914148514:32,031,305A/G—uncertain significance
rs37006342314:32,031,310A/G—uncertain significance
rs3457097214:32,031,327C/T—conflicting classifications of pathogenicity
rs213943617714:32,031,328C/T—pathogenic
rs20040143214:32,031,331G/Amissense variantpathogenic
rs86322412214:32,031,332G/A—likely benign
rs57336780614:32,031,334C/G—uncertain significance
rs54076978414:32,031,341A/G—conflicting classifications of pathogenicity
rs250234871414:32,031,344A/G—uncertain significance
rs159527744514:32,031,351G/T—likely benign
rs105511776714:32,031,357A/G—likely benign
rs74967297414:32,031,363T/A—likely benign
rs77132676314:32,031,364A/G—uncertain significance
rs77498721414:32,031,366A/G—conflicting classifications of pathogenicity
rs74968137314:32,031,366——pathogenic
rs250234907714:32,031,375A/G—uncertain significance
rs74535109714:32,031,382G/T—conflicting classifications of pathogenicity
rs77156473114:32,031,383C/A—uncertain significance
rs130086536914:32,031,402C/G—likely benign
rs37305501614:32,031,427A/G—uncertain significance
rs37707796914:32,031,435T/C—conflicting classifications of pathogenicity
rs375977914:32,034,147A/T—benign
rs203339954214:32,034,218A/G—likely pathogenic
rs250236090814:32,034,223A/G—uncertain significance
rs159528370814:32,034,228G/A—uncertain significance
rs37323250314:32,034,248C/T—conflicting classifications of pathogenicity
rs88605044914:32,034,249G/A—uncertain significance
rs203340059114:32,034,250A/T—uncertain significance
rs3543343214:32,034,253C/T—uncertain significance
rs76631667514:32,034,254G/A—uncertain significance
rs19096629714:32,046,839C/T—likely benign
rs714209814:32,047,217T/C—benign
rs498110414:32,047,450C/A—benign
rs203407114:32,068,215A/G—benign
rs498110514:32,068,242A/C—benign
rs203436117814:32,068,478T/C—likely benign
rs117990516514:32,068,501G/A—uncertain significance
rs116893329514:32,068,511T/A—uncertain significance
rs20143095114:32,068,514T/Cmissense variantpathogenic
rs39751544014:32,068,516G/Tmissense variantpathogenic
rs133097733414:32,068,519G/A—uncertain significance
rs77675861914:32,068,527G/A—likely benign
rs76547001014:32,068,548G/A—likely benign
rs77362079314:32,068,552A/G—uncertain significance
rs127382203314:32,068,554G/A—pathogenic
rs75548214814:32,068,572G/A—conflicting classifications of pathogenicity
rs86322412514:32,068,579T/C—uncertain significance
rs77745712014:32,068,588A/G—uncertain significance
rs1288559814:32,071,665G/Aintron variant—
rs714288114:32,093,548G/Aintron variant—
rs801310514:32,142,429G/A—benign
rs139857658314:32,142,556T/C—likely benign
rs14361276014:32,142,561G/A—uncertain significance
rs88605045014:32,142,562C/T—uncertain significance
rs250253330114:32,142,564A/G—uncertain significance
rs20141288214:32,142,591G/Amissense variantuncertain significance
rs250253353714:32,142,592T/G—likely benign
rs86806131014:32,142,608T/C—conflicting classifications of pathogenicity
rs105752408314:32,142,613A/G—likely benign
rs86322412314:32,142,689G/T—pathogenic
rs213981210714:32,142,690T/A—pathogenic
rs86322412414:32,142,693G/Amissense variantuncertain significance
rs76135684014:32,142,697A/G—uncertain significance
rs155532698914:32,142,726A/C—likely benign
rs148089298814:32,142,727G/A—uncertain significance
rs117207666614:32,142,735G/T—uncertain significance
rs75485351114:32,142,741C/A—likely benign
rs78134199814:32,142,755C/T—uncertain significance
rs77915480714:32,142,771G/A—likely benign
rs250253513114:32,142,799A/G—likely benign
rs7713914314:32,142,901C/T—benign
rs801353014:32,142,930A/G—benign

Showing 100 of 225 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.