Variant: rs1002571805 

    present in Gene: MMACHC
    present in Chromosome: 1
    Position on Chromosome: 45508837
    Alleles of this Variant: G/A;C

rs1002571805 in MMACHC gene and Methylmalonic acidemia with homocystinuria PMID 26825575 2016 Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.

PMID 19370762 2009 Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations.

PMID 26270766 2016 A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency.