rs370444838
This is a variant in the MTHFD1 gene that changes a serine to an phenylalanine.
▶ClinVar annotation
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia; Neural tube defects, folate-sensitive (NTDFS); Severe combined immunodeficiency disease (SCID)
View on ClinVar →About MTHFD1
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]
View all MTHFD1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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