Gene entry
MTHFD1
methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1
- Chromosome
- 14
- Cytoband
- 14q23.3
- Variants (rsID)
- 16
MTHFD1 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 14 (region 14q23.3). Its official name is “methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1”. The reference table lists 16 variants (rsID) for this gene.
Clinically classified variants
2 reference-table entries with clinical significance.
- rs1950902Benignsingle nucleotide variantCombined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
- rs2236225Benignsingle nucleotide variantNeural tube defects, folate-sensitive, susceptibility to|Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.