Variant: rs267607206 

    present in Gene: L2HGDH
    present in Chromosome: 14
    Position on Chromosome: 50302132
    Alleles of this Variant: T/A;C

rs267607206 in L2HGDH gene and L-2-HYDROXYGLUTARIC ACIDURIA PMID 15385440 2004 L-2-Hydroxyglutaric aciduria: identification of a mutant gene C14orf160, localized on chromosome 14q22.1.

PMID 15548604 2004 A gene encoding a putative FAD-dependent L-2-hydroxyglutarate dehydrogenase is mutated in L-2-hydroxyglutaric aciduria.

PMID 16134148 2005 Novel L2HGDH mutations in 21 patients with L-2-hydroxyglutaric aciduria of Portuguese origin.