Variant: rs1057519359 

    present in Gene: MTHFR
    present in Chromosome: 1
    Position on Chromosome: 11802880
    Alleles of this Variant: C/T

rs1057519359 in MTHFR gene and HOMOCYSTINURIA DUE TO DEFICIENCY OF N(5,10)-METHYLENETETRAHYDROFOLATE REDUCTASE ACTIVITY PMID 25856670 2016 Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

PMID 26872964 2016 Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency.