TSEN2
tRNA splicing endonuclease subunit 2
Summary
This gene encodes one of the subunits of the tRNA splicing endonuclease. This endonuclease catalyzes the first step in RNA splicing which is the removal of introns. Mutations in this gene have been associated with pontocerebellar hypoplasia type 2. A pseudogene has been identified on chromosome 4. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Feb 2009]
Known Variants237 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs808791 | 3:12,520,562 | G/T | intergenic variant | — |
| rs705963 | 3:12,524,642 | A/T | — | — |
| rs3806662 | 3:12,526,006 | G/A | — | likely benign |
| rs886057904 | 3:12,526,015 | A/C | — | uncertain significance |
| rs28657473 | 3:12,526,023 | G/A | — | likely benign |
| rs550947754 | 3:12,526,024 | C/T | — | likely benign |
| rs886057905 | 3:12,526,042 | C/T | — | uncertain significance |
| rs1023680154 | 3:12,526,044 | G/T | — | uncertain significance |
| rs190941859 | 3:12,526,100 | C/T | — | likely benign |
| rs1486288895 | 3:12,526,104 | A/G | — | uncertain significance |
| rs1175377888 | 3:12,526,173 | G/C | — | uncertain significance |
| rs533687592 | 3:12,526,175 | G/A | — | uncertain significance |
| rs182837891 | 3:12,526,177 | A/G | — | benign |
| rs886057906 | 3:12,526,178 | C/G | — | uncertain significance |
| rs709161 | 3:12,526,188 | G/T | — | benign |
| rs776511215 | 3:12,526,196 | C/T | — | uncertain significance |
| rs540294443 | 3:12,526,197 | C/T | — | likely benign |
| rs41293381 | 3:12,526,198 | G/T | — | benign |
| rs76012118 | 3:12,526,224 | C/T | — | likely benign |
| rs372043523 | 3:12,526,237 | C/G | — | uncertain significance |
| rs886057907 | 3:12,526,267 | T/C | — | uncertain significance |
| rs770631241 | 3:12,526,292 | A/G | — | uncertain significance |
| rs866706372 | 3:12,526,306 | A/C | — | uncertain significance |
| rs9871742 | 3:12,526,377 | G/A | — | likely benign |
| rs147893483 | 3:12,526,380 | G/T | — | benign |
| rs886057908 | 3:12,526,389 | G/A | — | uncertain significance |
| rs709160 | 3:12,526,402 | G/C | regulatory region variant | benign |
| rs112137479 | 3:12,531,025 | G/A | — | likely benign |
| rs12495676 | 3:12,531,065 | G/T | — | benign |
| rs12486196 | 3:12,531,165 | T/A | — | benign |
| rs41293383 | 3:12,531,168 | G/A | — | likely benign |
| rs780952847 | 3:12,531,287 | C/T | — | uncertain significance |
| rs777829635 | 3:12,531,322 | C/A | — | uncertain significance |
| rs749188000 | 3:12,531,323 | C/G | — | likely benign |
| rs760722955 | 3:12,531,356 | C/A | — | pathogenic |
| rs62637658 | 3:12,531,365 | A/C | — | likely benign |
| rs370222616 | 3:12,531,372 | A/G | — | uncertain significance |
| rs777378178 | 3:12,531,404 | A/G | — | conflicting classifications of pathogenicity |
| rs77258715 | 3:12,531,407 | A/G | — | benign |
| rs138662263 | 3:12,531,418 | T/G | — | uncertain significance |
| rs12495784 | 3:12,531,421 | G/A | — | benign |
| rs747194994 | 3:12,531,430 | T/C | — | uncertain significance |
| rs763202098 | 3:12,531,460 | C/T | — | uncertain significance |
| rs78685815 | 3:12,531,461 | G/A | — | benign |
| rs1423948377 | 3:12,531,475 | A/G | — | uncertain significance |
| rs753395791 | 3:12,531,487 | A/G | — | uncertain significance |
| rs78760113 | 3:12,531,581 | A/G | — | benign |
| rs299639 | 3:12,533,335 | A/C | — | benign |
| rs74685105 | 3:12,533,505 | C/A | — | likely benign |
| rs139322684 | 3:12,533,578 | T/C | — | likely benign |
| rs1289878587 | 3:12,533,660 | C/A | — | pathogenic |
| rs1260512452 | 3:12,533,668 | C/T | — | uncertain significance |
| rs2124949014 | 3:12,533,676 | C/T | — | likely benign |
| rs774798241 | 3:12,533,686 | T/G | — | uncertain significance |
| rs761422744 | 3:12,533,693 | C/G | — | uncertain significance |
| rs149844189 | 3:12,533,716 | G/C | — | uncertain significance |
| rs7613355 | 3:12,537,754 | A/G | — | benign |
| rs17036841 | 3:12,537,924 | T/C | — | likely benign |
| rs299651 | 3:12,537,955 | T/A | — | benign |
| rs41293385 | 3:12,538,013 | C/G | — | likely benign |
| rs2471398718 | 3:12,538,014 | C/T | — | uncertain significance |
| rs762441178 | 3:12,538,037 | A/G | — | uncertain significance |
| rs766269585 | 3:12,538,040 | A/G | — | uncertain significance |
| rs1394099469 | 3:12,538,072 | T/C | — | likely benign |
| rs41293387 | 3:12,538,111 | A/G | — | likely benign |
| rs112608772 | 3:12,538,251 | T/G | — | likely benign |
| rs760332839 | 3:12,544,752 | G/A | — | likely benign |
| rs148549222 | 3:12,544,761 | G/A | — | conflicting classifications of pathogenicity |
| rs202097247 | 3:12,544,774 | G/T | — | uncertain significance |
| rs77899976 | 3:12,544,779 | A/G | — | benign |
| rs545512354 | 3:12,544,783 | G/A | — | uncertain significance |
| rs1191534817 | 3:12,544,803 | A/G | — | likely benign |
| rs151133206 | 3:12,544,828 | C/T | — | conflicting classifications of pathogenicity |
| rs33955793 | 3:12,544,829 | G/A | — | benign |
| rs142211875 | 3:12,544,841 | A/C | — | likely benign |
| rs780584726 | 3:12,544,855 | C/T | — | uncertain significance |
| rs563130249 | 3:12,544,856 | C/T | — | uncertain significance |
| rs140728375 | 3:12,544,857 | G/A | — | likely benign |
| rs2054495026 | 3:12,544,874 | T/A | — | uncertain significance |
| rs778603443 | 3:12,544,883 | A/G | — | uncertain significance |
| rs761769383 | 3:12,544,914 | C/T | — | likely benign |
| rs763286358 | 3:12,544,924 | G/A | — | uncertain significance |
| rs2471513651 | 3:12,544,940 | G/A | — | uncertain significance |
| rs1178412243 | 3:12,544,943 | C/T | — | uncertain significance |
| rs373438118 | 3:12,544,948 | G/T | — | uncertain significance |
| rs781750491 | 3:12,544,949 | G/C | — | uncertain significance |
| rs2054504083 | 3:12,544,951 | G/C | — | uncertain significance |
| rs141580750 | 3:12,544,974 | C/T | — | conflicting classifications of pathogenicity |
| rs768475720 | 3:12,544,977 | G/A | — | likely benign |
| rs146117200 | 3:12,545,012 | G/C | — | conflicting classifications of pathogenicity |
| rs2054511809 | 3:12,545,019 | A/G | — | likely benign |
| rs143243952 | 3:12,545,039 | G/T | — | uncertain significance |
| rs886057909 | 3:12,545,056 | A/T | — | uncertain significance |
| rs35557378 | 3:12,545,060 | C/T | — | uncertain significance |
| rs1052849982 | 3:12,545,064 | G/A | — | likely benign |
| rs151022816 | 3:12,545,079 | C/T | — | likely benign |
| rs186223564 | 3:12,545,080 | G/A | — | uncertain significance |
| rs201734805 | 3:12,545,087 | A/C | — | uncertain significance |
| rs3796329 | 3:12,545,091 | T/C | — | benign |
| rs2471517466 | 3:12,545,099 | C/T | — | uncertain significance |
Showing 100 of 237 variants. Use the SNP search for the full list.
Gene information from NCBI Gene. Variant classifications from ClinVar.