TUFM

Tu translation elongation factor, mitochondrial

Summary

This gene encodes a protein which participates in protein translation in mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency resulting in lactic acidosis and fatal encephalopathy. A pseudogene has been identified on chromosome 17. [provided by RefSeq, Jul 2008]

Known Variants183 total

rsidPosition (GRCh37)AllelesClassClinVar
rs18487874916:28,853,735T/A—conflicting classifications of pathogenicity
rs88605187516:28,853,779C/G—uncertain significance
rs54294445216:28,853,851C/T—uncertain significance
rs52767876716:28,853,863A/G—uncertain significance
rs56070150116:28,853,898C/T—uncertain significance
rs56722436816:28,853,926A/C—uncertain significance
rs74998269116:28,853,947C/T—uncertain significance
rs308821516:28,853,996A/C—benign
rs86730558416:28,854,026G/A—uncertain significance
rs55868131816:28,854,067C/T—uncertain significance
rs88605187616:28,854,147C/G—uncertain significance
rs75356429616:28,854,186T/C—uncertain significance
rs54522097316:28,854,236A/C—uncertain significance
rs37550834316:28,854,259C/T—uncertain significance
rs875416:28,854,272G/A—benign
rs14978616916:28,854,300C/T—uncertain significance
rs196183942916:28,854,306T/A—uncertain significance
rs19967483816:28,854,316T/C—uncertain significance
rs196184028316:28,854,327G/T—uncertain significance
rs196184039516:28,854,331T/C—uncertain significance
rs75312458616:28,854,356G/A—likely benign
rs14632603316:28,854,372T/C—conflicting classifications of pathogenicity
rs143960026116:28,854,380T/G—likely benign
rs77189337416:28,854,393C/T—uncertain significance
rs77542740116:28,854,394G/A—uncertain significance
rs19980607316:28,854,422C/T—likely benign
rs75321481216:28,854,423C/T—uncertain significance
rs102496346916:28,854,434G/A—likely benign
rs75657132616:28,854,435T/C—uncertain significance
rs77996892216:28,854,449C/T—likely benign
rs74959225016:28,854,455G/A—likely benign
rs86322424616:28,854,468T/Cmissense variantpathogenic
rs37616936916:28,854,472A/G—conflicting classifications of pathogenicity
rs77998561416:28,854,479G/C—likely benign
rs13955001116:28,854,495C/T—likely benign
rs2840362916:28,854,769A/G—benign
rs78104928116:28,855,037A/C—likely benign
rs215214655316:28,855,040C/T—likely benign
rs126078443316:28,855,125G/A—uncertain significance
rs101184007916:28,855,129C/T—likely benign
rs11459009116:28,855,131C/T—conflicting classifications of pathogenicity
rs254482924216:28,855,152C/G—uncertain significance
rs54828795916:28,855,252C/T—likely benign
rs37203222916:28,855,253G/A—likely benign
rs56801274216:28,855,262A/C—likely benign
rs196186585816:28,855,324G/C—uncertain significance
rs12143445216:28,855,329C/Tmissense variantpathogenic
rs132391135216:28,855,330G/A—uncertain significance
rs94681801516:28,855,333G/A—uncertain significance
rs53704367016:28,855,349C/T—likely benign
rs92409907316:28,855,356C/G—likely pathogenic
rs76509015916:28,855,361C/G—likely benign
rs20159311516:28,855,364G/C—likely benign
rs75756971716:28,855,370G/A—conflicting classifications of pathogenicity
rs78151469316:28,855,382G/A—likely benign
rs77469468216:28,855,404T/C—uncertain significance
rs215214672916:28,855,405T/C—uncertain significance
rs20080795016:28,855,429C/T—likely benign
rs76346804216:28,855,431G/T—uncertain significance
rs76183451516:28,855,437G/A—likely benign
rs14245349016:28,855,497C/T—likely benign
rs6173756516:28,855,522G/C—benign
rs14794304316:28,855,535G/A—benign
rs254482989516:28,855,539G/A—likely benign
rs76080357216:28,855,543T/C—conflicting classifications of pathogenicity
rs76421712116:28,855,544C/T—likely benign
rs14526448216:28,855,561A/G—likely benign
rs13786309416:28,855,564G/A—likely benign
rs54380243316:28,855,566G/A—uncertain significance
rs254482992916:28,855,567G/C—uncertain significance
rs78027357316:28,855,579A/G—conflicting classifications of pathogenicity
rs14078358216:28,855,600G/A—likely benign
rs77922847916:28,855,622C/T—uncertain significance
rs76528278816:28,855,631G/A—uncertain significance
rs159660233016:28,855,648G/C—uncertain significance
rs75187210716:28,855,653G/A—uncertain significance
rs146245091616:28,855,672C/T—likely benign
rs37653013716:28,855,721G/C—likely benign
rs105752391516:28,855,724C/G—likely benign
rs478809916:28,855,727A/Gupstream gene variantbenign
rs91807394516:28,855,746C/T—conflicting classifications of pathogenicity
rs52829462016:28,855,747G/A—uncertain significance
rs77741573916:28,855,757G/A—uncertain significance
rs254483018016:28,855,758C/T—uncertain significance
rs13891750316:28,855,797C/T—conflicting classifications of pathogenicity
rs18537977916:28,855,798G/A—conflicting classifications of pathogenicity
rs131824718316:28,855,825A/C—uncertain significance
rs254483031016:28,855,851G/A—likely benign
rs196188257516:28,855,863G/T—uncertain significance
rs130771434316:28,855,869G/A—uncertain significance
rs11210555916:28,855,904C/A—likely benign
rs75893186216:28,856,010C/T—likely benign
rs11778288216:28,856,011G/A—conflicting classifications of pathogenicity
rs18842132116:28,856,013G/A—likely benign
rs75785802016:28,856,029C/T—uncertain significance
rs14318988516:28,856,081C/T—uncertain significance
rs37206994116:28,856,084T/G—conflicting classifications of pathogenicity
rs159660292116:28,856,105G/A—likely benign
rs196189098816:28,856,108C/G—uncertain significance
rs196189146416:28,856,122A/G—uncertain significance

Showing 100 of 183 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.

TUFM — Tu translation elongation factor, mitochondrial