Variant: rs141210410

present in Gene: MTHFD1 present in Chromosome: 14 Position on Chromosome: 64417926 Alleles of this Variant: C/T

rs141210410 in MTHFD1 gene and COMBINED IMMUNODEFICIENCY AND MEGALOBLASTIC ANEMIA WITH OR WITHOUT HYPERHOMOCYSTEINEMIA PMID 21813566 2011 Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.