Variant: rs267606893 

    present in Gene: ND5
    present in Chromosome: MT
    Position on Chromosome: 12706
    Alleles of this Variant: T/C

rs267606893 in ND5 gene and Leigh Disease PMID 11938446 2002 Leigh disease associated with a novel mitochondrial DNA ND5 mutation.

PMID 12796552 2003 A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.

PMID 17317336 2007 Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.

PMID 17400793 2007 Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.

PMID 14684687 2003 Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.