TKT
transketolase
Summary
This gene encodes a thiamine-dependent enzyme which plays a role in the channeling of excess sugar phosphates to glycolysis in the pentose phosphate pathway. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Apr 2012]
Known Variants87 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs371149052 | 3:53,259,849 | C/G | — | uncertain significance |
| rs782739264 | 3:53,259,851 | G/T | — | uncertain significance |
| rs4687714 | 3:53,259,854 | T/C | — | benign |
| rs146102577 | 3:53,259,862 | T/C | — | benign |
| rs370465126 | 3:53,259,873 | G/A | — | uncertain significance |
| rs782361329 | 3:53,259,885 | G/T | — | uncertain significance |
| rs976488037 | 3:53,259,899 | A/G | — | uncertain significance |
| rs781959083 | 3:53,259,927 | A/T | — | uncertain significance |
| rs3816767 | 3:53,259,996 | G/A | — | benign |
| rs951384680 | 3:53,260,777 | T/C | — | uncertain significance |
| rs368723545 | 3:53,260,819 | C/T | — | uncertain significance |
| rs1469399284 | 3:53,260,864 | A/T | — | uncertain significance |
| rs1328734845 | 3:53,262,092 | G/A | — | uncertain significance |
| rs762983878 | 3:53,262,105 | C/T | — | uncertain significance |
| rs200391494 | 3:53,262,106 | G/C | — | likely benign |
| rs2471148601 | 3:53,262,125 | C/A | — | uncertain significance |
| rs140330385 | 3:53,262,132 | C/T | — | uncertain significance |
| rs782175302 | 3:53,262,165 | C/T | — | uncertain significance |
| rs782423189 | 3:53,262,303 | C/T | — | uncertain significance |
| rs1204236713 | 3:53,262,359 | C/T | — | uncertain significance |
| rs377506783 | 3:53,263,035 | G/C | — | likely benign |
| rs782503903 | 3:53,263,065 | G/A | — | likely benign |
| rs141784567 | 3:53,263,112 | T/C | — | benign |
| rs143812206 | 3:53,263,134 | C/T | — | likely benign |
| rs148178844 | 3:53,263,146 | G/A | — | likely benign |
| rs3736155 | 3:53,263,200 | C/G | — | benign |
| rs3736156 | 3:53,263,279 | A/G | — | benign |
| rs879954506 | 3:53,263,294 | A/G | — | uncertain significance |
| rs150603999 | 3:53,263,305 | C/T | — | uncertain significance |
| rs782093994 | 3:53,263,320 | C/T | — | uncertain significance |
| rs34601275 | 3:53,263,333 | G/A | — | benign |
| rs782304194 | 3:53,263,342 | G/A | — | likely benign |
| rs144151385 | 3:53,263,351 | G/C | — | benign |
| rs138820989 | 3:53,263,383 | A/G | — | conflicting classifications of pathogenicity |
| rs201588631 | 3:53,263,390 | T/C | — | likely benign |
| rs782390818 | 3:53,263,424 | C/T | — | uncertain significance |
| rs202195999 | 3:53,264,490 | T/C | — | uncertain significance |
| rs908872216 | 3:53,264,500 | G/A | — | likely benign |
| rs782092363 | 3:53,264,628 | G/A | missense variant | pathogenic |
| rs143676012 | 3:53,265,417 | T/G | — | uncertain significance |
| rs1704751764 | 3:53,265,444 | C/T | — | uncertain significance |
| rs138887336 | 3:53,265,467 | T/A | — | likely benign |
| rs958008008 | 3:53,265,476 | C/T | — | uncertain significance |
| rs538445390 | 3:53,265,510 | G/T | — | uncertain significance |
| rs2471158344 | 3:53,265,517 | C/A | — | uncertain significance |
| rs781905246 | 3:53,265,545 | — | — | pathogenic |
| rs369338717 | 3:53,265,552 | C/G | — | uncertain significance |
| rs17234092 | 3:53,265,581 | T/C | — | benign |
| rs6445573 | 3:53,267,133 | G/C | — | benign |
| rs2242301 | 3:53,267,155 | G/A | — | benign |
| rs139694567 | 3:53,267,183 | C/T | — | likely benign |
| rs142470919 | 3:53,267,281 | G/A | — | likely benign |
| rs868953318 | 3:53,267,287 | C/T | stop gained | pathogenic |
| rs367717657 | 3:53,267,299 | A/G | — | likely benign |
| rs191724044 | 3:53,268,990 | C/T | — | likely benign |
| rs201022137 | 3:53,269,010 | G/A | — | likely benign |
| rs150551962 | 3:53,269,028 | G/T | — | likely benign |
| rs1051485 | 3:53,269,046 | T/C | — | benign |
| rs2471168235 | 3:53,269,047 | G/A | — | uncertain significance |
| rs201348801 | 3:53,269,052 | C/T | — | likely benign |
| rs549160877 | 3:53,269,053 | G/A | — | uncertain significance |
| rs17052920 | 3:53,269,087 | T/C | — | conflicting classifications of pathogenicity |
| rs1051483 | 3:53,269,163 | G/A | — | benign |
| rs12633000 | 3:53,271,040 | A/G | — | — |
| rs3821692 | 3:53,272,067 | G/A | regulatory region variant | — |
| rs200118854 | 3:53,274,274 | T/C | — | uncertain significance |
| rs2471180266 | 3:53,274,280 | A/C | — | uncertain significance |
| rs11556002 | 3:53,274,311 | G/A | — | benign |
| rs144750087 | 3:53,274,350 | G/A | — | likely benign |
| rs180704294 | 3:53,275,145 | T/G | — | likely benign |
| rs371557559 | 3:53,275,171 | C/A | — | uncertain significance |
| rs201367126 | 3:53,275,194 | A/G | — | uncertain significance |
| rs782443490 | 3:53,275,203 | G/A | — | uncertain significance |
| rs373896575 | 3:53,275,207 | C/T | — | uncertain significance |
| rs2471185030 | 3:53,276,185 | G/A | — | likely pathogenic |
| rs782145197 | 3:53,276,187 | G/A | — | uncertain significance |
| rs1018949618 | 3:53,276,197 | G/A | — | uncertain significance |
| rs201142076 | 3:53,276,237 | G/A | — | likely benign |
| rs73840299 | 3:53,277,063 | C/A | — | — |
| rs62255995 | 3:53,279,830 | A/G | intron variant | — |
| rs4687717 | 3:53,282,188 | T/G | — | — |
| rs4687718 | 3:53,282,303 | A/T | — | — |
| rs62256003 | 3:53,283,952 | A/T | intron variant | — |
| rs781901735 | 3:53,289,875 | C/A | — | uncertain significance |
| rs1575578668 | 3:53,289,878 | G/A | — | likely benign |
| rs782431137 | 3:53,289,886 | T/C | — | uncertain significance |
| rs78293061 | 3:53,289,907 | T/C | — | uncertain significance |
Gene information from NCBI Gene. Variant classifications from ClinVar.