Variant: rs121434360 

    present in Gene: D2HGDH
    present in Chromosome: 2
    Position on Chromosome: 241767734
    Alleles of this Variant: T/C

rs121434360 in D2HGDH gene and D-2-HYDROXYGLUTARIC ACIDURIA 1 PMID 15609246 2005 Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

PMID 16081310 2006 Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins.

PMID 16037974 2005 Mutations in phenotypically mild D-2-hydroxyglutaric aciduria.