MTHFS
methenyltetrahydrofolate synthetase
Summary
The protein encoded by this gene is an enzyme that catalyzes the conversion of 5-formyltetrahydrofolate to 5,10-methenyltetrahydrofolate, a precursor of reduced folates involved in 1-carbon metabolism. An increased activity of the encoded protein can result in an increased folate turnover rate and folate depletion. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Jun 2011]
Known Variants47 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs2505112934 | 15:80,137,559 | G/A | — | uncertain significance |
| rs8923 | 15:80,137,560 | T/C | — | benign |
| rs142334286 | 15:80,137,572 | C/T | — | benign |
| rs964704236 | 15:80,137,599 | C/T | — | uncertain significance |
| rs753238244 | 15:80,137,600 | G/A | — | likely benign |
| rs754470226 | 15:80,137,648 | C/G | — | likely benign |
| rs771379232 | 15:80,137,680 | G/A | — | likely pathogenic |
| rs753635972 | 15:80,137,730 | C/T | — | conflicting classifications of pathogenicity |
| rs139934877 | 15:80,137,744 | G/A | — | benign |
| rs566629562 | 15:80,137,789 | G/A | — | likely benign |
| rs6495446 | 15:80,154,982 | C/T | intron variant | — |
| rs62027990 | 15:80,170,638 | G/A | regulatory region variant | — |
| rs138155613 | 15:80,181,436 | T/C | — | uncertain significance |
| rs1314153447 | 15:80,181,437 | G/A | — | uncertain significance |
| rs142339581 | 15:80,181,455 | C/T | — | uncertain significance |
| rs145953716 | 15:80,181,459 | C/G | — | likely benign |
| rs201569682 | 15:80,181,479 | G/A | — | uncertain significance |
| rs140052193 | 15:80,181,494 | G/A | — | uncertain significance |
| rs149273610 | 15:80,181,521 | G/A | — | uncertain significance |
| rs1484240468 | 15:80,181,531 | T/C | — | uncertain significance |
| rs772103355 | 15:80,181,564 | G/A | — | uncertain significance |
| rs1015709949 | 15:80,181,570 | G/A | — | uncertain significance |
| rs777878165 | 15:80,181,594 | G/A | — | pathogenic |
| rs1193851172 | 15:80,181,642 | T/C | — | uncertain significance |
| rs774395304 | 15:80,181,664 | T/C | — | likely benign |
| rs371656894 | 15:80,181,714 | G/A | — | likely benign |
| rs575753275 | 15:80,189,202 | G/A | — | likely benign |
| rs544557204 | 15:80,189,207 | C/G | — | likely benign |
| rs1349638340 | 15:80,189,224 | A/G | — | pathogenic |
| rs2141385090 | 15:80,189,227 | A/G | — | uncertain significance |
| rs200058464 | 15:80,189,230 | A/C | — | benign |
| rs2505210679 | 15:80,189,236 | T/A | — | uncertain significance |
| rs913038753 | 15:80,189,243 | G/A | — | likely benign |
| rs375704220 | 15:80,189,247 | C/T | — | likely benign |
| rs2505210794 | 15:80,189,255 | C/T | — | uncertain significance |
| rs896339718 | 15:80,189,260 | A/G | — | uncertain significance |
| rs375170671 | 15:80,189,277 | C/T | — | likely benign |
| rs200983403 | 15:80,189,295 | G/T | — | likely benign |
| rs764862907 | 15:80,189,296 | C/A | — | uncertain significance |
| rs775176873 | 15:80,189,303 | T/G | — | uncertain significance |
| rs1030708924 | 15:80,189,309 | T/C | — | likely benign |
| rs190625458 | 15:80,189,317 | G/A | — | benign |
| rs751966216 | 15:80,189,318 | C/A | — | uncertain significance |
| rs3826008 | 15:80,189,805 | G/C | — | — |
| rs184575290 | 15:80,191,280 | T/A | missense variant | — |
| rs139874813 | 15:80,191,338 | A/G | missense variant | — |
| rs7257 | 15:80,191,343 | G/A | missense variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.