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

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs184878749	16:28,853,735	T/A	—	conflicting classifications of pathogenicity
rs886051875	16:28,853,779	C/G	—	uncertain significance
rs542944452	16:28,853,851	C/T	—	uncertain significance
rs527678767	16:28,853,863	A/G	—	uncertain significance
rs560701501	16:28,853,898	C/T	—	uncertain significance
rs567224368	16:28,853,926	A/C	—	uncertain significance
rs749982691	16:28,853,947	C/T	—	uncertain significance
rs3088215	16:28,853,996	A/C	—	benign
rs867305584	16:28,854,026	G/A	—	uncertain significance
rs558681318	16:28,854,067	C/T	—	uncertain significance
rs886051876	16:28,854,147	C/G	—	uncertain significance
rs753564296	16:28,854,186	T/C	—	uncertain significance
rs545220973	16:28,854,236	A/C	—	uncertain significance
rs375508343	16:28,854,259	C/T	—	uncertain significance
rs8754	16:28,854,272	G/A	—	benign
rs149786169	16:28,854,300	C/T	—	uncertain significance
rs1961839429	16:28,854,306	T/A	—	uncertain significance
rs199674838	16:28,854,316	T/C	—	uncertain significance
rs1961840283	16:28,854,327	G/T	—	uncertain significance
rs1961840395	16:28,854,331	T/C	—	uncertain significance
rs753124586	16:28,854,356	G/A	—	likely benign
rs146326033	16:28,854,372	T/C	—	conflicting classifications of pathogenicity
rs1439600261	16:28,854,380	T/G	—	likely benign
rs771893374	16:28,854,393	C/T	—	uncertain significance
rs775427401	16:28,854,394	G/A	—	uncertain significance
rs199806073	16:28,854,422	C/T	—	likely benign
rs753214812	16:28,854,423	C/T	—	uncertain significance
rs1024963469	16:28,854,434	G/A	—	likely benign
rs756571326	16:28,854,435	T/C	—	uncertain significance
rs779968922	16:28,854,449	C/T	—	likely benign
rs749592250	16:28,854,455	G/A	—	likely benign
rs863224246	16:28,854,468	T/C	missense variant	pathogenic
rs376169369	16:28,854,472	A/G	—	conflicting classifications of pathogenicity
rs779985614	16:28,854,479	G/C	—	likely benign
rs139550011	16:28,854,495	C/T	—	likely benign
rs28403629	16:28,854,769	A/G	—	benign
rs781049281	16:28,855,037	A/C	—	likely benign
rs2152146553	16:28,855,040	C/T	—	likely benign
rs1260784433	16:28,855,125	G/A	—	uncertain significance
rs1011840079	16:28,855,129	C/T	—	likely benign
rs114590091	16:28,855,131	C/T	—	conflicting classifications of pathogenicity
rs2544829242	16:28,855,152	C/G	—	uncertain significance
rs548287959	16:28,855,252	C/T	—	likely benign
rs372032229	16:28,855,253	G/A	—	likely benign
rs568012742	16:28,855,262	A/C	—	likely benign
rs1961865858	16:28,855,324	G/C	—	uncertain significance
rs121434452	16:28,855,329	C/T	missense variant	pathogenic
rs1323911352	16:28,855,330	G/A	—	uncertain significance
rs946818015	16:28,855,333	G/A	—	uncertain significance
rs537043670	16:28,855,349	C/T	—	likely benign
rs924099073	16:28,855,356	C/G	—	likely pathogenic
rs765090159	16:28,855,361	C/G	—	likely benign
rs201593115	16:28,855,364	G/C	—	likely benign
rs757569717	16:28,855,370	G/A	—	conflicting classifications of pathogenicity
rs781514693	16:28,855,382	G/A	—	likely benign
rs774694682	16:28,855,404	T/C	—	uncertain significance
rs2152146729	16:28,855,405	T/C	—	uncertain significance
rs200807950	16:28,855,429	C/T	—	likely benign
rs763468042	16:28,855,431	G/T	—	uncertain significance
rs761834515	16:28,855,437	G/A	—	likely benign
rs142453490	16:28,855,497	C/T	—	likely benign
rs61737565	16:28,855,522	G/C	—	benign
rs147943043	16:28,855,535	G/A	—	benign
rs2544829895	16:28,855,539	G/A	—	likely benign
rs760803572	16:28,855,543	T/C	—	conflicting classifications of pathogenicity
rs764217121	16:28,855,544	C/T	—	likely benign
rs145264482	16:28,855,561	A/G	—	likely benign
rs137863094	16:28,855,564	G/A	—	likely benign
rs543802433	16:28,855,566	G/A	—	uncertain significance
rs2544829929	16:28,855,567	G/C	—	uncertain significance
rs780273573	16:28,855,579	A/G	—	conflicting classifications of pathogenicity
rs140783582	16:28,855,600	G/A	—	likely benign
rs779228479	16:28,855,622	C/T	—	uncertain significance
rs765282788	16:28,855,631	G/A	—	uncertain significance
rs1596602330	16:28,855,648	G/C	—	uncertain significance
rs751872107	16:28,855,653	G/A	—	uncertain significance
rs1462450916	16:28,855,672	C/T	—	likely benign
rs376530137	16:28,855,721	G/C	—	likely benign
rs1057523915	16:28,855,724	C/G	—	likely benign
rs4788099	16:28,855,727	A/G	upstream gene variant	benign
rs918073945	16:28,855,746	C/T	—	conflicting classifications of pathogenicity
rs528294620	16:28,855,747	G/A	—	uncertain significance
rs777415739	16:28,855,757	G/A	—	uncertain significance
rs2544830180	16:28,855,758	C/T	—	uncertain significance
rs138917503	16:28,855,797	C/T	—	conflicting classifications of pathogenicity
rs185379779	16:28,855,798	G/A	—	conflicting classifications of pathogenicity
rs1318247183	16:28,855,825	A/C	—	uncertain significance
rs2544830310	16:28,855,851	G/A	—	likely benign
rs1961882575	16:28,855,863	G/T	—	uncertain significance
rs1307714343	16:28,855,869	G/A	—	uncertain significance
rs112105559	16:28,855,904	C/A	—	likely benign
rs758931862	16:28,856,010	C/T	—	likely benign
rs117782882	16:28,856,011	G/A	—	conflicting classifications of pathogenicity
rs188421321	16:28,856,013	G/A	—	likely benign
rs757858020	16:28,856,029	C/T	—	uncertain significance
rs143189885	16:28,856,081	C/T	—	uncertain significance
rs372069941	16:28,856,084	T/G	—	conflicting classifications of pathogenicity
rs1596602921	16:28,856,105	G/A	—	likely benign
rs1961890988	16:28,856,108	C/G	—	uncertain significance
rs1961891464	16:28,856,122	A/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.