TRIT1

tRNA isopentenyltransferase 1

Summary

This gene encodes a protein that that is targeted to the mitochondrion and modifies transfer RNAs (tRNAs) by adding a dimethylallyl group onto the adenine at position 37. This modification is important for maintaining the correct reading frame during protein translation. This gene is considered a tumor suppressor and its expression can decrease cell growth. Alternative splicing results in multiple transcripts variants, most of which are likely non-functional. [provided by RefSeq, Aug 2015]

Known Variants112 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs199579505	1:40,307,422	G/A	—	likely benign
rs2522381718	1:40,307,510	A/G	—	uncertain significance
rs1641925599	1:40,307,519	A/C	—	uncertain significance
rs1292074449	1:40,307,530	G/A	—	likely benign
rs879200535	1:40,307,535	A/G	—	likely benign
rs566435653	1:40,307,564	T/G	missense variant	uncertain significance
rs201731718	1:40,307,584	C/T	—	likely benign
rs147582410	1:40,307,585	G/A	—	uncertain significance
rs2522382789	1:40,307,587	T/C	—	likely pathogenic
rs114327070	1:40,307,780	T/G	—	likely benign
rs1238030336	1:40,309,761	C/T	—	likely benign
rs2522400834	1:40,309,775	G/A	—	uncertain significance
rs1480188897	1:40,309,776	C/A	—	uncertain significance
rs764506732	1:40,309,782	C/T	—	likely pathogenic
rs142932194	1:40,309,783	G/A	—	likely benign
rs761729793	1:40,309,784	C/T	—	uncertain significance
rs776537579	1:40,309,793	A/G	—	uncertain significance
rs367752391	1:40,309,803	G/A	stop gained	pathogenic
rs755646032	1:40,309,862	T/C	—	uncertain significance
rs777447388	1:40,309,869	G/A	—	uncertain significance
rs190645424	1:40,310,195	A/G	—	likely benign
rs756888115	1:40,310,200	T/C	—	uncertain significance
rs371087760	1:40,310,220	C/T	—	uncertain significance
rs16826617	1:40,310,221	G/A	—	benign
rs2124577339	1:40,310,285	T/C	—	uncertain significance
rs1642120998	1:40,310,292	G/A	—	uncertain significance
rs774397936	1:40,310,296	G/A	—	likely benign
rs1049034432	1:40,310,316	A/C	—	uncertain significance
rs376204338	1:40,310,332	G/A	—	benign
rs115570662	1:40,310,545	C/A	—	likely benign
rs147493574	1:40,312,601	C/G	—	likely benign
rs368244922	1:40,312,882	T/C	—	likely benign
rs79374109	1:40,312,903	C/T	—	likely benign
rs144042123	1:40,312,919	G/A	—	pathogenic
rs1047420796	1:40,312,930	C/T	missense variant	pathogenic
rs370866302	1:40,312,931	G/A	—	pathogenic
rs756431935	1:40,312,940	T/C	—	uncertain significance
rs556107670	1:40,312,973	A/G	—	likely benign
rs1642309613	1:40,313,283	G/A	—	uncertain significance
rs1060505019	1:40,313,292	T/C	missense variant	uncertain significance
rs199622789	1:40,313,300	A/C	missense variant	pathogenic
rs145009373	1:40,313,301	T/C	—	uncertain significance
rs866540220	1:40,313,315	C/T	—	uncertain significance
rs975558410	1:40,313,639	A/G	—	likely benign
rs1212227114	1:40,313,643	C/T	—	likely benign
rs201156716	1:40,313,689	G/A	—	uncertain significance
rs145359484	1:40,313,757	C/T	—	uncertain significance
rs140406438	1:40,313,758	G/A	—	uncertain significance
rs6668028	1:40,315,533	T/C	—	benign
rs1039399054	1:40,315,861	A/G	—	likely benign
rs1207948812	1:40,315,862	C/T	—	uncertain significance
rs34889376	1:40,315,871	G/A	—	likely benign
rs57069259	1:40,315,880	C/A	—	likely benign
rs3738671	1:40,315,888	A/T	—	benign
rs760045849	1:40,315,898	T/G	—	uncertain significance
rs1004798728	1:40,315,903	G/A	—	likely benign
rs931795492	1:40,315,910	G/C	—	uncertain significance
rs2124597984	1:40,315,926	G/A	—	pathogenic
rs41268045	1:40,316,155	T/C	—	benign
rs1335284694	1:40,318,388	G/A	—	likely benign
rs775824065	1:40,318,415	C/T	—	uncertain significance
rs1250754198	1:40,318,416	G/A	—	uncertain significance
rs200061848	1:40,318,424	T/C	—	uncertain significance
rs2522473924	1:40,318,445	A/G	—	uncertain significance
rs766217798	1:40,318,470	G/A	—	uncertain significance
rs1479561866	1:40,318,482	C/A	—	uncertain significance
rs1030596307	1:40,318,515	G/A	—	pathogenic
rs183302003	1:40,318,528	C/T	—	conflicting classifications of pathogenicity
rs1642667473	1:40,318,552	T/C	—	uncertain significance
rs144896772	1:40,318,561	G/A	—	likely benign
rs114806141	1:40,318,867	A/G	—	likely benign
rs61779834	1:40,319,375	C/T	—	benign
rs2311342	1:40,319,379	T/C	—	benign
rs769010250	1:40,319,624	C/T	—	likely benign
rs201938274	1:40,319,632	C/G	—	likely benign
rs1272799785	1:40,319,648	A/G	—	likely benign
rs767452261	1:40,319,688	T/C	—	uncertain significance
rs756728965	1:40,319,722	G/A	—	pathogenic
rs146838322	1:40,319,730	A/G	—	conflicting classifications of pathogenicity
rs750071570	1:40,319,731	T/C	—	uncertain significance
rs1642752455	1:40,319,745	A/G	—	likely benign
rs11580351	1:40,320,034	T/C	—	likely benign
rs566328102	1:40,320,600	A/T	—	—
rs562131479	1:40,322,954	C/A	—	uncertain significance
rs766087007	1:40,322,975	C/T	—	conflicting classifications of pathogenicity
rs199602634	1:40,323,015	G/C	—	uncertain significance
rs144463028	1:40,323,017	T/A	—	uncertain significance
rs35273801	1:40,323,028	C/G	—	uncertain significance
rs965726994	1:40,323,056	C/T	—	uncertain significance
rs1642963220	1:40,323,064	G/A	—	uncertain significance
rs918988197	1:40,323,081	T/G	—	uncertain significance
rs16826625	1:40,324,293	T/A	—	—
rs6700363	1:40,335,625	T/C	intron variant	—
rs3845569	1:40,348,052	G/A	upstream gene variant	—
rs149708820	1:40,348,735	C/T	—	likely benign
rs1233391805	1:40,348,972	C/A	—	likely benign
rs781532818	1:40,349,023	G/A	—	likely benign
rs747839263	1:40,349,028	G/A	—	uncertain significance
rs2124702371	1:40,349,033	C/G	—	uncertain significance
rs1169885446	1:40,349,050	C/T	—	likely benign

Showing 100 of 112 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.