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MTHFD1

methylenetetrahydrofolate dehydrogenase, cyclohydrolase and formyltetrahydrofolate synthetase 1

HCNC Approved Symbol
MTHFD1 (HGNC:7432)
Genomic Coordinates
14:64,388,353 - 64,460,025 (14q23.3)
Synonyms
MTHFC, MTHFD
Disease Associations
This gene is associated with the following 2 diseases in OMIM.
View More Disease Info
Disease NameOMIM IDInheritance
{Neural tube defects, folate-sensitive, susceptibility to}
601634AR
Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia
617780AR

Diagnosed Cases

0Patient

There are no patients diagnosed with a variant in the MTHFD1 gene.

Frequently observed phenotypes

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

No Results