MTHFD1L
methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1 like
Summary
The protein encoded by this gene is involved in the synthesis of tetrahydrofolate (THF) in the mitochondrion. THF is important in the de novo synthesis of purines and thymidylate and in the regeneration of methionine from homocysteine. Several transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Jun 2011]
Known Variants67 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1778196386 | 6:151,186,963 | G/A | — | uncertain significance |
| rs2483979209 | 6:151,186,968 | C/A | — | uncertain significance |
| rs1270189287 | 6:151,187,007 | C/G | — | uncertain significance |
| rs2128703875 | 6:151,187,019 | C/T | — | uncertain significance |
| rs2483984529 | 6:151,187,041 | C/G | — | uncertain significance |
| rs2483986247 | 6:151,187,061 | G/A | — | uncertain significance |
| rs1380673640 | 6:151,187,079 | G/A | — | uncertain significance |
| rs1277656894 | 6:151,187,086 | G/C | — | uncertain significance |
| rs1053900238 | 6:151,187,161 | C/T | — | uncertain significance |
| rs2073067 | 6:151,197,152 | C/G | intron variant | — |
| rs758500649 | 6:151,197,251 | G/A | — | uncertain significance |
| rs760359979 | 6:151,197,291 | C/T | — | uncertain significance |
| rs764043398 | 6:151,198,928 | A/G | — | uncertain significance |
| rs803424 | 6:151,206,166 | C/T | intron variant | — |
| rs11754661 | 6:151,207,078 | G/T | — | — |
| rs763170805 | 6:151,208,978 | T/C | — | uncertain significance |
| rs150695212 | 6:151,208,993 | A/G | — | uncertain significance |
| rs749398298 | 6:151,209,052 | C/G | — | uncertain significance |
| rs1207817931 | 6:151,209,101 | G/A | — | uncertain significance |
| rs144664749 | 6:151,209,105 | G/T | — | uncertain significance |
| rs17349743 | 6:151,213,211 | T/C | regulatory region variant | — |
| rs803422 | 6:151,215,594 | A/C | — | — |
| rs3832406 | 6:151,219,984 | — | — | — |
| rs753684815 | 6:151,226,801 | A/G | — | uncertain significance |
| rs2485218720 | 6:151,226,851 | A/G | — | uncertain significance |
| rs774161080 | 6:151,239,781 | C/G | — | uncertain significance |
| rs969380460 | 6:151,239,797 | G/A | — | uncertain significance |
| rs567950016 | 6:151,243,383 | C/G | — | uncertain significance |
| rs367598413 | 6:151,247,282 | A/C | — | uncertain significance |
| rs142684557 | 6:151,247,344 | T/C | — | uncertain significance |
| rs751475807 | 6:151,247,379 | G/A | — | uncertain significance |
| rs1484464508 | 6:151,247,406 | G/A | — | uncertain significance |
| rs6922269 | 6:151,252,985 | G/A | upstream gene variant | — |
| rs749501330 | 6:151,257,932 | G/A | — | likely benign |
| rs767378904 | 6:151,258,023 | A/G | — | uncertain significance |
| rs2486108840 | 6:151,258,055 | G/A | — | uncertain significance |
| rs372597629 | 6:151,259,838 | G/A | — | uncertain significance |
| rs140112064 | 6:151,265,684 | C/T | — | benign |
| rs1332835678 | 6:151,265,707 | A/G | — | uncertain significance |
| rs138249315 | 6:151,266,610 | A/G | — | uncertain significance |
| rs1439109443 | 6:151,266,661 | A/G | — | uncertain significance |
| rs2486427723 | 6:151,270,189 | A/G | — | uncertain significance |
| rs767147621 | 6:151,270,192 | C/G | — | uncertain significance |
| rs376707119 | 6:151,270,249 | C/A | — | uncertain significance |
| rs149938963 | 6:151,270,258 | C/T | — | uncertain significance |
| rs139952525 | 6:151,281,412 | C/T | — | uncertain significance |
| rs150253908 | 6:151,293,173 | G/A | — | uncertain significance |
| rs12525353 | 6:151,300,032 | C/A | intron variant | — |
| rs491552 | 6:151,311,055 | C/T | — | — |
| rs767011130 | 6:151,330,963 | G/A | — | uncertain significance |
| rs1228953071 | 6:151,330,999 | T/G | — | uncertain significance |
| rs570312042 | 6:151,331,015 | G/A | — | uncertain significance |
| rs770250806 | 6:151,331,030 | T/C | — | uncertain significance |
| rs536470352 | 6:151,334,919 | C/T | — | uncertain significance |
| rs556473256 | 6:151,334,934 | T/C | — | uncertain significance |
| rs752022496 | 6:151,336,092 | T/C | — | uncertain significance |
| rs2483711031 | 6:151,336,114 | C/A | — | uncertain significance |
| rs191699496 | 6:151,336,656 | G/A | — | uncertain significance |
| rs2483725119 | 6:151,336,738 | C/G | — | uncertain significance |
| rs373771820 | 6:151,355,635 | A/G | — | likely benign |
| rs2484143993 | 6:151,355,647 | A/T | — | uncertain significance |
| rs142733823 | 6:151,355,660 | C/T | — | uncertain significance |
| rs1181872885 | 6:151,358,206 | G/A | — | uncertain significance |
| rs760351758 | 6:151,358,248 | G/A | — | uncertain significance |
| rs4869977 | 6:151,389,183 | G/C | regulatory region variant | — |
| rs35767555 | 6:151,400,888 | G/A | intron variant | — |
| rs7646 | 6:151,422,750 | A/T | — | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.