MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

Summary

This gene encodes a protein that possesses three distinct enzymatic activities, 5,10-methylenetetrahydrofolate dehydrogenase, 5,10-methenyltetrahydrofolate cyclohydrolase and 10-formyltetrahydrofolate synthetase. Each of these activities catalyzes one of three sequential reactions in the interconversion of 1-carbon derivatives of tetrahydrofolate, which are substrates for methionine, thymidylate, and de novo purine syntheses. The trifunctional enzymatic activities are conferred by two major domains, an aminoterminal portion containing the dehydrogenase and cyclohydrolase activities and a larger synthetase domain. [provided by RefSeq, Jul 2008]

Known Variants451 total

rsidPosition (GRCh37)AllelesClassClinVar
rs107699114:64,855,041T/Gregulatory region variant—
rs20097975114:64,855,163C/T—benign
rs125501493614:64,855,169C/A—uncertain significance
rs77198683714:64,855,174A/G—uncertain significance
rs37159410714:64,855,175G/A—likely benign
rs15101930314:64,867,522C/T—likely benign
rs74795839414:64,867,523G/A—likely benign
rs54808434314:64,867,537A/G—uncertain significance
rs77052074014:64,867,573C/T—uncertain significance
rs11150945314:64,867,578C/T—uncertain significance
rs90550673314:64,867,579G/A—uncertain significance
rs207789016214:64,867,589A/G—uncertain significance
rs76454734314:64,867,592A/G—likely benign
rs255049465214:64,867,603G/A—likely benign
rs140849508114:64,867,608T/C—likely benign
rs800668614:64,868,671T/Cintron variant—
rs800337914:64,873,599A/Cintron variant—
rs37302438314:64,877,790A/G—likely benign
rs255049666214:64,877,796T/C—likely benign
rs119402014714:64,877,799T/C—likely benign
rs37739793914:64,877,816C/T—likely benign
rs37044483814:64,877,827C/Tmissense variantpathogenic
rs155533681014:64,877,833T/C—likely pathogenic
rs207798005014:64,877,842A/G—uncertain significance
rs37368232414:64,877,872C/T—uncertain significance
rs75083950014:64,877,873G/A—uncertain significance
rs214095291214:64,877,877G/C—likely benign
rs76665660314:64,877,878A/G—likely benign
rs75162321714:64,877,882G/A—likely benign
rs75495243714:64,877,885G/C—likely benign
rs207799196914:64,879,173T/C—likely benign
rs37720785814:64,879,174A/C—likely benign
rs52885104314:64,879,175A/G—uncertain significance
rs214095394214:64,879,176T/C—likely benign
rs255049716814:64,879,195G/A—likely benign
rs207799243614:64,879,213T/C—likely benign
rs54897542214:64,879,216G/T—uncertain significance
rs7510814614:64,879,221C/G—uncertain significance
rs76674035614:64,879,226A/T—uncertain significance
rs255049719514:64,879,242A/T—uncertain significance
rs76744280214:64,879,249C/A—uncertain significance
rs103105660414:64,879,252T/C—conflicting classifications of pathogenicity
rs255049720114:64,879,259T/C—likely benign
rs207799275514:64,879,262A/G—likely benign
rs37519190914:64,882,059T/C—likely benign
rs36851444814:64,882,063G/A—benign
rs96105226014:64,882,110C/A—uncertain significance
rs37101633314:64,882,111T/G—likely benign
rs214095605614:64,882,130G/A—uncertain significance
rs132942446114:64,882,133C/T—likely pathogenic
rs37375719914:64,882,141T/G—likely benign
rs76491908714:64,882,151G/T—pathogenic
rs94539530414:64,882,166A/T—uncertain significance
rs75027722114:64,882,171A/G—likely benign
rs75798587814:64,882,176T/C—uncertain significance
rs255049797814:64,882,186T/A—likely benign
rs36765139914:64,882,187A/G—uncertain significance
rs118681097214:64,882,188T/C—uncertain significance
rs255049809214:64,882,351T/A—likely benign
rs102904104914:64,882,360G/A—likely benign
rs37519045614:64,882,367A/G—uncertain significance
rs214095625614:64,882,373G/A—uncertain significance
rs195090214:64,882,380A/Gmissense variantbenign
rs77307386914:64,882,385G/A—uncertain significance
rs207802033814:64,882,386C/G—uncertain significance
rs37188067414:64,882,387T/A—likely benign
rs54782594514:64,882,407G/C—uncertain significance
rs98135489114:64,882,422C/T—uncertain significance
rs78030623514:64,882,423G/A—likely benign
rs76904029614:64,882,435C/T—likely benign
rs134676928314:64,882,447C/T—likely benign
rs20181726014:64,882,457G/C—uncertain significance
rs76204540314:64,882,468C/T—likely benign
rs141668791914:64,882,473C/G—likely benign
rs75887891114:64,884,588G/A—uncertain significance
rs99912186814:64,884,604A/G—likely pathogenic
rs78053657014:64,884,606G/A—uncertain significance
rs74744813714:64,884,613G/A—likely benign
rs18366485814:64,884,619C/T—likely benign
rs77318542414:64,884,620G/A—uncertain significance
rs120403798414:64,884,625G/A—likely benign
rs14658074114:64,884,634G/A—likely benign
rs14121041014:64,884,644C/Gmissense variantuncertain significance
rs78169812114:64,884,645G/A—uncertain significance
rs76026895214:64,884,667G/A—likely benign
rs75532925514:64,884,694T/C—likely benign
rs74939048814:64,884,700A/G—likely benign
rs214095777714:64,884,721G/A—likely benign
rs19950197614:64,884,726C/T—likely benign
rs214095779214:64,884,736T/C—likely benign
rs90989122414:64,884,737G/A—conflicting classifications of pathogenicity
rs118407267514:64,884,747G/A—uncertain significance
rs214095780214:64,884,750G/A—likely benign
rs137986602614:64,884,762G/A—likely benign
rs490228414:64,885,772C/G——
rs156656215714:64,886,524A/G—likely benign
rs77608575614:64,886,532G/A—uncertain significance
rs129133468614:64,886,534A/G—likely benign
rs133692681114:64,886,535A/T—uncertain significance
rs76008658214:64,886,562A/G—uncertain significance

Showing 100 of 451 variants. Use the SNP search for the full list.

Gene information from NCBI Gene. Variant classifications from ClinVar.