MTO1

mitochondrial tRNA translation optimization 1

Summary

This gene encodes a mitochondrial protein thought to be involved in mitochondrial tRNA modification. The encoded protein may also play a role in the expression of the non-syndromic and aminoglycoside-induced deafness phenotypes associated with a specific mutation in the mitochondrial 12S rRNA gene. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]

Known Variants574 total

rsidPosition (GRCh37)AllelesClassClinVar
rs5695044936:74,169,660C/T——
rs121984686:74,171,384C/A—benign
rs17138626:74,171,467C/G—benign
rs3754064656:74,171,533C/A—likely benign
rs7784058076:74,171,565T/G—likely benign
rs7723183336:74,171,574C/T—conflicting classifications of pathogenicity
rs7691839326:74,171,585A/G—uncertain significance
rs25332332726:74,171,586C/T—likely benign
rs25332332806:74,171,587T/C—uncertain significance
rs3743320846:74,171,589C/T—likely benign
rs21500243166:74,171,599G/T—uncertain significance
rs7733065126:74,171,601C/T—likely benign
rs7632457626:74,171,602C/G—uncertain significance
rs13278733766:74,171,604T/C—likely benign
rs14309459766:74,171,610C/T—likely benign
rs13066309696:74,171,613G/T—likely benign
rs8668999756:74,171,614G/A—uncertain significance
rs15826659756:74,171,615T/C—conflicting classifications of pathogenicity
rs25332334946:74,171,622C/T—likely benign
rs1456253966:74,171,626A/G—uncertain significance
rs17708283896:74,171,636T/C—uncertain significance
rs7538738716:74,171,638C/T—uncertain significance
rs3687235636:74,171,647C/T—uncertain significance
rs2004177606:74,171,648G/A—uncertain significance
rs9248678816:74,171,655C/G—uncertain significance
rs12404352166:74,171,656A/T—uncertain significance
rs21500243786:74,171,657G/T—uncertain significance
rs7802426496:74,171,659G/A—uncertain significance
rs17708294136:74,171,660A/C—uncertain significance
rs21500243866:74,171,662A/T—uncertain significance
rs25332337006:74,171,670G/A—likely benign
rs3723958386:74,171,671C/T—uncertain significance
rs9386485826:74,171,673C/T—likely benign
rs7690592046:74,171,674C/T—uncertain significance
rs7484137116:74,171,680C/G—uncertain significance
rs7771130046:74,171,681C/T—uncertain significance
rs7697004326:74,171,682G/A—likely benign
rs14541783286:74,171,685C/G—uncertain significance
rs3757839626:74,171,688C/T—likely benign
rs13820060656:74,171,691C/T—likely benign
rs7666531546:74,171,692G/A—uncertain significance
rs17708316026:74,171,699T/G—uncertain significance
rs13510451146:74,171,700C/G—likely benign
rs21500244396:74,171,705G/T—uncertain significance
rs14628237096:74,171,706T/C—likely benign
rs25332338896:74,171,712A/G—likely benign
rs10499053196:74,171,716G/A—uncertain significance
rs21500244526:74,171,719G/A—uncertain significance
rs7538225626:74,171,723C/T—uncertain significance
rs17708325806:74,171,724T/C—likely benign
rs25332339636:74,171,729C/T—uncertain significance
rs7618132656:74,171,736C/G—likely benign
rs7646045756:74,171,742C/G—likely benign
rs17708335716:74,171,743G/A—uncertain significance
rs3768879696:74,171,752G/T—uncertain significance
rs2012798836:74,171,753G/C—conflicting classifications of pathogenicity
rs15826662776:74,171,760G/T—likely benign
rs3712753246:74,171,764C/G—likely benign
rs7493547216:74,171,769C/T—likely benign
rs25332341896:74,171,779C/T—uncertain significance
rs12519529266:74,171,780G/A—uncertain significance
rs13463216376:74,171,785G/A—uncertain significance
rs1384944956:74,171,787C/T—likely benign
rs1430469676:74,171,793C/G—uncertain significance
rs25332343366:74,171,813G/A—likely benign
rs25332343456:74,171,814T/G—likely benign
rs5397303106:74,172,068C/A—benign
rs5517023076:74,172,069T/G—benign
rs624406296:74,172,075C/A—benign
rs769439686:74,175,894G/A—likely benign
rs12848329246:74,175,917G/T—likely benign
rs7670693996:74,175,918T/G—likely benign
rs17709798796:74,175,919C/A—likely benign
rs14037694506:74,175,921A/G—likely benign
rs25332448216:74,175,937A/G—uncertain significance
rs17709811326:74,175,942A/G—likely benign
rs10647931966:74,175,944G/Amissense variantpathogenic
rs21500271976:74,175,949C/A—uncertain significance
rs14089747566:74,175,952T/C—uncertain significance
rs15619391526:74,175,954C/T—likely benign
rs25332449116:74,175,956T/G—uncertain significance
rs3743844686:74,175,966C/T—likely benign
rs10549678426:74,175,967G/A—uncertain significance
rs7771740746:74,175,972G/A—likely benign
rs7510297056:74,175,974G/A—uncertain significance
rs13067068496:74,175,984G/A—uncertain significance
rs7471994646:74,175,987G/A—likely benign
rs7551813006:74,175,990A/G—likely benign
rs7599314196:74,175,996T/C—likely benign
rs25332451786:74,175,999C/T—likely benign
rs1451314906:74,176,000T/A—uncertain significance
rs25332452286:74,176,014T/C—likely benign
rs12357318206:74,176,015T/C—uncertain significance
rs2015705826:74,176,018C/T—uncertain significance
rs7707582286:74,176,019G/A—uncertain significance
rs5749802806:74,176,021A/G—uncertain significance
rs17709864276:74,176,026T/C—likely benign
rs10089305196:74,176,027G/A—uncertain significance
rs25332453416:74,176,046A/G—uncertain significance
rs17709877756:74,176,051G/A—uncertain significance

Showing 100 of 574 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.