rs151019303
This variant is located in the MTHFD1 gene.
▶ClinVar annotation
not provided; MTHFD1-related disorder; Uveal melanoma; Malignant lymphoma, large B-cell, diffuse; Sarcoma; Ovarian serous cystadenocarcinoma; Cholangiocarcinoma; Gastric cancer; Melanoma; Nonpapillary renal cell carcinoma; Adrenocortical carcinoma, hereditary; Lung cancer; Familial cancer of breast
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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