TRMT44
tRNA methyltransferase 44 homolog
Summary
The protein encoded by this gene is a putative tRNA methyltransferase found in the cytoplasm. Defects in this gene may be a cause of partial epilepsy with pericentral spikes (PEPS), but that has not been proven definitively. [provided by RefSeq, May 2012]
Known Variants70 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs987026826 | 4:8,442,553 | G/C | — | uncertain significance |
| rs754040852 | 4:8,442,590 | C/A | — | uncertain significance |
| rs758774873 | 4:8,442,665 | G/C | — | uncertain significance |
| rs533050698 | 4:8,442,693 | C/G | — | uncertain significance |
| rs771312952 | 4:8,442,743 | C/T | — | uncertain significance |
| rs1724636207 | 4:8,442,758 | G/A | — | uncertain significance |
| rs1424104674 | 4:8,442,770 | C/T | — | uncertain significance |
| rs1471802709 | 4:8,442,790 | G/C | — | uncertain significance |
| rs773190135 | 4:8,442,807 | G/C | — | uncertain significance |
| rs2474810142 | 4:8,442,835 | G/T | — | uncertain significance |
| rs2474810307 | 4:8,442,848 | T/C | — | uncertain significance |
| rs777771310 | 4:8,442,944 | G/T | — | uncertain significance |
| rs549393245 | 4:8,442,961 | C/A | — | uncertain significance |
| rs778711332 | 4:8,443,016 | G/C | — | uncertain significance |
| rs61733546 | 4:8,443,034 | C/A | — | uncertain significance |
| rs1724679914 | 4:8,443,090 | G/A | — | uncertain significance |
| rs775673983 | 4:8,443,138 | A/G | — | uncertain significance |
| rs751618154 | 4:8,443,157 | T/C | — | uncertain significance |
| rs2474849009 | 4:8,448,274 | A/T | — | uncertain significance |
| rs200663012 | 4:8,448,298 | A/G | — | uncertain significance |
| rs761801656 | 4:8,451,400 | A/G | — | uncertain significance |
| rs1302791596 | 4:8,451,448 | G/A | — | uncertain significance |
| rs1426925540 | 4:8,451,532 | A/G | — | uncertain significance |
| rs754176871 | 4:8,451,536 | G/T | — | uncertain significance |
| rs962959963 | 4:8,451,541 | C/G | — | uncertain significance |
| rs540935559 | 4:8,451,574 | G/A | — | uncertain significance |
| rs1008254314 | 4:8,453,687 | G/A | — | uncertain significance |
| rs746235503 | 4:8,453,716 | G/T | — | uncertain significance |
| rs917071135 | 4:8,454,715 | G/A | — | uncertain significance |
| rs1189112665 | 4:8,456,488 | A/G | — | uncertain significance |
| rs746318968 | 4:8,456,533 | A/G | — | uncertain significance |
| rs2474950054 | 4:8,465,716 | A/G | — | likely benign |
| rs138834659 | 4:8,465,736 | A/G | — | uncertain significance |
| rs143660619 | 4:8,467,121 | C/A | — | uncertain significance |
| rs370035059 | 4:8,467,172 | C/T | — | uncertain significance |
| rs1055027798 | 4:8,467,181 | A/C | — | uncertain significance |
| rs2474959306 | 4:8,467,194 | A/G | — | uncertain significance |
| rs376641486 | 4:8,467,250 | G/A | — | uncertain significance |
| rs375168963 | 4:8,467,254 | A/C | — | likely benign |
| rs2474960455 | 4:8,467,269 | G/A | — | uncertain significance |
| rs767059061 | 4:8,469,666 | C/T | — | uncertain significance |
| rs765644915 | 4:8,469,729 | G/A | — | likely benign |
| rs556068441 | 4:8,469,737 | C/T | — | uncertain significance |
| rs141406474 | 4:8,469,840 | G/A | — | uncertain significance |
| rs752752419 | 4:8,469,901 | G/T | — | uncertain significance |
| rs199651886 | 4:8,469,917 | C/T | — | uncertain significance |
| rs530154260 | 4:8,469,924 | A/G | — | uncertain significance |
| rs201920958 | 4:8,469,936 | G/A | — | uncertain significance |
| rs371817333 | 4:8,469,969 | T/A | — | uncertain significance |
| rs369514598 | 4:8,470,029 | C/A | — | uncertain significance |
| rs913597472 | 4:8,470,064 | A/G | — | uncertain significance |
| rs150441746 | 4:8,470,068 | G/C | — | uncertain significance |
| rs138383736 | 4:8,472,816 | C/G | — | uncertain significance |
| rs375450341 | 4:8,472,846 | G/T | — | uncertain significance |
| rs146322919 | 4:8,472,850 | C/T | — | uncertain significance |
| rs149314248 | 4:8,472,867 | C/G | — | uncertain significance |
| rs753402957 | 4:8,472,879 | T/C | — | uncertain significance |
| rs371628364 | 4:8,472,903 | C/T | — | uncertain significance |
| rs145982044 | 4:8,477,532 | G/A | — | uncertain significance |
| rs762530826 | 4:8,477,540 | A/G | — | uncertain significance |
| rs761375759 | 4:8,477,558 | C/G | — | uncertain significance |
| rs746230757 | 4:8,477,610 | G/T | — | uncertain significance |
| rs554381265 | 4:8,477,616 | T/A | — | uncertain significance |
| rs772621814 | 4:8,477,623 | G/C | — | uncertain significance |
| rs975544986 | 4:8,477,658 | G/A | — | uncertain significance |
| rs576421639 | 4:8,477,664 | C/T | — | uncertain significance |
| rs780314671 | 4:8,477,673 | A/G | — | uncertain significance |
| rs549307102 | 4:8,477,699 | C/T | — | uncertain significance |
| rs1949733 | 4:8,503,359 | A/G | intron variant | — |
| rs4374609 | 4:8,512,529 | G/A | coding sequence variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.