Variant: rs199476122 

    present in Gene: ND1;ND2
    present in Chromosome: MT
    Position on Chromosome: 3697
    Alleles of this Variant: G/A

rs199476122 in ND1;ND2 gene and MELAS Syndrome PMID 15466014 2004 Mutations of the mitochondrial ND1 gene as a cause of MELAS.

PMID 17562939 2007 A MELAS-associated ND1 mutation causing leber hereditary optic neuropathy and spastic dystonia.

PMID 16969869 2006 Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.

PMID 24830958 2014 Homoplasmy of a mitochondrial 3697G>A mutation causes Leigh syndrome.