TSEN34

tRNA splicing endonuclease subunit 34

Summary

This gene encodes a catalytic subunit of the tRNA splicing endonuclease, which catalyzes the removal of introns from precursor tRNAs. The endonuclease complex is also associated with a pre-mRNA 3-prime end processing factor. A mutation in this gene results in the neurological disorder pontocerebellar hypoplasia type 2. Multiple alternatively spliced variants, encoding the same protein, have been identified.[provided by RefSeq, Oct 2009]

Known Variants154 total

rsid	Position (GRCh37)	Alleles	Class	ClinVar
rs36629	19:54,691,727	G/A	upstream gene variant	—
rs36628	19:54,691,758	G/T	—	—
rs36627	19:54,691,777	G/A	upstream gene variant	—
rs36626	19:54,691,979	G/C	upstream gene variant	—
rs183716	19:54,693,554	C/G	regulatory region variant	—
rs75899395	19:54,694,088	C/T	—	benign
rs886054622	19:54,694,131	C/A	—	uncertain significance
rs115290127	19:54,694,211	A/G	—	likely benign
rs886054623	19:54,694,265	G/A	—	uncertain significance
rs141003293	19:54,694,316	G/A	—	likely benign
rs16985457	19:54,694,334	G/C	—	benign
rs36623	19:54,694,550	G/A	—	benign
rs8105385	19:54,694,973	A/C	—	benign
rs78510537	19:54,695,015	C/G	—	benign
rs566932562	19:54,695,042	G/C	—	likely benign
rs58123079	19:54,695,054	G/T	—	likely benign
rs536602313	19:54,695,077	C/T	—	likely benign
rs532178295	19:54,695,146	G/A	—	likely benign
rs593073	19:54,695,163	C/T	—	benign
rs587784471	19:54,695,183	G/C	—	likely benign
rs373725676	19:54,695,207	C/T	—	likely benign
rs573039542	19:54,695,208	G/A	—	conflicting classifications of pathogenicity
rs778510316	19:54,695,220	T/C	—	uncertain significance
rs2515393624	19:54,695,253	T/C	—	uncertain significance
rs184898622	19:54,695,254	G/A	—	likely benign
rs1307925755	19:54,695,288	C/T	—	uncertain significance
rs1177449660	19:54,695,305	C/T	—	likely benign
rs746020777	19:54,695,309	A/C	—	uncertain significance
rs770199288	19:54,695,310	C/A	—	uncertain significance
rs931778585	19:54,695,311	G/T	—	uncertain significance
rs764561719	19:54,695,330	G/A	—	uncertain significance
rs1388984477	19:54,695,360	C/T	—	uncertain significance
rs752491666	19:54,695,361	C/T	—	uncertain significance
rs1276930053	19:54,695,368	G/A	—	uncertain significance
rs113994150	19:54,695,387	C/T	missense variant	pathogenic
rs371101113	19:54,695,392	C/G	—	likely benign
rs886054624	19:54,695,398	C/A	—	uncertain significance
rs925711973	19:54,695,419	G/C	—	likely benign
rs2076700377	19:54,695,429	C/G	—	uncertain significance
rs530821643	19:54,695,431	G/T	—	likely benign
rs368255252	19:54,695,442	C/G	—	uncertain significance
rs200004897	19:54,695,445	G/C	—	conflicting classifications of pathogenicity
rs763821686	19:54,695,451	A/G	—	uncertain significance
rs376782929	19:54,695,475	C/G	—	likely benign
rs147971748	19:54,695,477	A/G	—	benign
rs2147079233	19:54,695,578	A/G	—	uncertain significance
rs758855323	19:54,695,590	C/T	—	uncertain significance
rs797046053	19:54,695,596	C/G	—	uncertain significance
rs200274242	19:54,695,602	G/C	—	conflicting classifications of pathogenicity
rs770587931	19:54,695,622	C/T	—	uncertain significance
rs1171544968	19:54,695,623	G/C	—	uncertain significance
rs138586360	19:54,695,642	G/A	—	likely benign
rs2076713664	19:54,695,649	C/G	—	likely benign
rs765357797	19:54,695,650	C/G	—	uncertain significance
rs17849378	19:54,695,662	C/G	—	benign
rs373221013	19:54,695,667	G/A	—	likely benign
rs540633663	19:54,695,674	A/T	—	uncertain significance
rs778325434	19:54,695,684	G/A	—	uncertain significance
rs770591262	19:54,695,693	C/T	—	uncertain significance
rs1471434668	19:54,695,697	G/A	—	uncertain significance
rs1410559570	19:54,695,717	C/T	—	uncertain significance
rs202245444	19:54,695,720	C/T	—	uncertain significance
rs201506921	19:54,695,722	G/A	—	likely benign
rs767815202	19:54,695,725	G/C	—	uncertain significance
rs2515411333	19:54,695,729	G/A	—	uncertain significance
rs201438919	19:54,695,752	A/G	—	uncertain significance
rs2515412023	19:54,695,756	A/G	—	uncertain significance
rs373921569	19:54,695,770	G/T	—	uncertain significance
rs770771466	19:54,695,779	A/G	—	conflicting classifications of pathogenicity
rs142185185	19:54,695,789	A/C	—	uncertain significance
rs1172457952	19:54,695,792	C/G	—	uncertain significance
rs775204637	19:54,695,795	C/T	—	uncertain significance
rs376153530	19:54,695,796	G/C	—	conflicting classifications of pathogenicity
rs2515413203	19:54,695,802	G/A	—	likely benign
rs767719199	19:54,695,826	G/T	—	uncertain significance
rs2147081737	19:54,695,834	G/T	—	likely benign
rs1311061954	19:54,695,951	C/A	—	likely benign
rs374531111	19:54,695,953	G/C	—	likely benign
rs199558314	19:54,695,954	T/A	—	likely benign
rs368604010	19:54,695,958	C/T	—	likely benign
rs111329931	19:54,695,965	A/C	—	uncertain significance
rs754925761	19:54,695,969	C/T	—	likely benign
rs201833183	19:54,695,977	T/G	—	likely benign
rs2515417004	19:54,695,987	G/A	—	uncertain significance
rs1463790091	19:54,696,000	G/A	—	uncertain significance
rs200436138	19:54,696,021	C/A	—	uncertain significance
rs1386210515	19:54,696,024	C/T	—	uncertain significance
rs2515418616	19:54,696,035	C/A	—	uncertain significance
rs753620541	19:54,696,045	C/T	—	uncertain significance
rs200626822	19:54,696,060	C/T	—	conflicting classifications of pathogenicity
rs781446570	19:54,696,070	C/G	—	uncertain significance
rs746249746	19:54,696,073	G/A	—	likely benign
rs2076736869	19:54,696,108	C/G	—	uncertain significance
rs371900485	19:54,696,119	C/T	—	uncertain significance
rs794727650	19:54,696,121	C/T	—	uncertain significance
rs375366303	19:54,696,154	A/G	—	conflicting classifications of pathogenicity
rs780634749	19:54,696,158	C/G	—	uncertain significance
rs886054625	19:54,696,166	G/A	—	uncertain significance
rs11879943	19:54,696,167	C/A	—	benign
rs969895008	19:54,696,178	C/T	—	likely benign

Showing 100 of 154 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.