TSFM

Ts translation elongation factor, mitochondrial

Summary

This gene encodes a mitochondrial translation elongation factor. The encoded protein is an enzyme that catalyzes the exchange of guanine nucleotides on the translation elongation factor Tu during the elongation step of mitchondrial protein translation. Mutations in this gene are associated with combined oxidative phosphorylation deficiency-3 syndrome. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Known Variants393 total

rsidPosition (GRCh37)AllelesClassClinVar
rs1756580412:58,176,420T/C—benign
rs98323829812:58,176,577C/A—likely benign
rs76894213812:58,176,585A/T—uncertain significance
rs86902554212:58,176,586T/G—uncertain significance
rs214041244112:58,176,587G/A—uncertain significance
rs3595792412:58,176,589C/A—pathogenic
rs119013349212:58,176,590G/C—likely benign
rs55022799612:58,176,591C/T—likely benign
rs254094145312:58,176,593G/A—likely benign
rs76587197712:58,176,594C/T—likely benign
rs195552875612:58,176,595T/C—uncertain significance
rs77357240412:58,176,596G/T—likely benign
rs195552888412:58,176,597C/A—likely benign
rs37233773912:58,176,601C/A—pathogenic
rs214041250512:58,176,603C/T—likely benign
rs135183851212:58,176,605G/T—likely benign
rs75577316512:58,176,606C/T—uncertain significance
rs76366865612:58,176,607G/C—uncertain significance
rs13846198612:58,176,608C/T—conflicting classifications of pathogenicity
rs139406260212:58,176,611G/T—likely benign
rs1074778312:58,176,614T/C—benign
rs159513345812:58,176,615C/T—likely benign
rs254094160112:58,176,618G/T—uncertain significance
rs132902875812:58,176,620C/T—likely benign
rs56637916412:58,176,621G/T—uncertain significance
rs254094163212:58,176,626G/A—likely benign
rs122036759712:58,176,629C/T—likely benign
rs78001186212:58,176,632G/A—conflicting classifications of pathogenicity
rs125103087712:58,176,635C/T—likely benign
rs54851070112:58,176,637A/T—uncertain significance
rs140388242512:58,176,642G/A—likely pathogenic
rs58777768912:58,176,645A/G—pathogenic
rs77694850412:58,176,648A/G—likely benign
rs146922870812:58,176,649G/A—likely benign
rs74857430512:58,176,654G/A—likely benign
rs37663112012:58,176,658C/T—likely benign
rs122743097012:58,176,661G/T—likely benign
rs1161418512:58,176,797A/G—likely benign
rs76163491112:58,176,874C/T—likely benign
rs195553480812:58,176,875C/T—likely benign
rs76492924712:58,176,879C/T—likely benign
rs75017705412:58,176,884C/T—likely benign
rs214041301212:58,176,885T/A—likely benign
rs155520419712:58,176,886C/T—likely benign
rs37480098512:58,176,888T/C—likely benign
rs146646872912:58,176,889C/T—likely benign
rs134698132112:58,176,891A/G—likely pathogenic
rs75171495612:58,176,893G/A—uncertain significance
rs78160783312:58,176,894C/T—uncertain significance
rs19988434212:58,176,897G/C—uncertain significance
rs14731781812:58,176,904T/A—conflicting classifications of pathogenicity
rs214041305912:58,176,906T/G—uncertain significance
rs254094274212:58,176,908C/A—uncertain significance
rs143250004512:58,176,909G/A—uncertain significance
rs77487083412:58,176,911C/T—pathogenic
rs254094276312:58,176,913G/A—likely benign
rs77632490212:58,176,919C/T—likely benign
rs214041309212:58,176,920C/T—pathogenic
rs254094279012:58,176,923C/T—uncertain significance
rs14879763112:58,176,927G/C—uncertain significance
rs159513395512:58,176,929C/G—uncertain significance
rs120110756312:58,176,932A/G—uncertain significance
rs195553639812:58,176,934A/G—likely benign
rs214041311412:58,176,937T/C—likely benign
rs76276319712:58,176,940T/C—likely benign
rs96330430712:58,176,941G/T—uncertain significance
rs53045000512:58,176,943T/C—likely benign
rs214041314012:58,176,946G/T—likely benign
rs36888934612:58,176,947C/T—uncertain significance
rs37241677812:58,176,948C/T—uncertain significance
rs75820292812:58,176,949C/G—likely benign
rs138809573212:58,176,951G/T—uncertain significance
rs14760969812:58,176,952T/A—likely benign
rs95867079512:58,176,953C/G—uncertain significance
rs141040345212:58,176,957C/T—uncertain significance
rs254094293912:58,176,958T/C—likely benign
rs19279818812:58,176,961C/T—likely benign
rs134850877712:58,176,963C/T—uncertain significance
rs77801373612:58,176,967C/T—likely benign
rs254094301212:58,176,974A/T—likely pathogenic
rs37365928412:58,176,975A/G—uncertain significance
rs13948748912:58,176,982C/T—likely benign
rs94570101412:58,176,985C/T—likely benign
rs77290213512:58,176,992C/T—likely benign
rs20221373612:58,176,996G/A—uncertain significance
rs130924399012:58,177,006A/C—likely benign
rs75955647112:58,177,011A/G—uncertain significance
rs118230407512:58,177,012C/T—likely benign
rs131324554412:58,177,015C/T—likely benign
rs123546587112:58,177,024T/C—likely benign
rs20153464712:58,177,025T/A—uncertain significance
rs125910594912:58,177,026G/A—uncertain significance
rs75285287112:58,177,027C/A—likely pathogenic
rs75616708212:58,177,029A/C—uncertain significance
rs118686251412:58,177,030G/A—likely benign
rs159513425112:58,177,036T/C—likely benign
rs195553860012:58,177,039G/A—likely benign
rs119573394812:58,177,040G/A—uncertain significance
rs132879445112:58,177,042G/A—likely benign
rs214041332712:58,177,045T/C—likely benign

Showing 100 of 393 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.