Variant: rs199476138 

    present in Gene: ND3;COX3;ND4;ND4L;ATP6
    present in Chromosome: MT
    Position on Chromosome: 9185
    Alleles of this Variant: T/C

rs199476138 in ND3;COX3;ND4;ND4L;ATP6 gene and Charcot-Marie-Tooth Disease PMID 22933740 2012 Genetic dysfunction of MT-ATP6 causes axonal Charcot-Marie-Tooth disease.

rs199476138 in ND3;COX3;ND4;ND4L;ATP6 gene and Leigh Disease PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 17352390 2007 Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.

PMID 16217706 2005 Two new mutations in the MTATP6 gene associated with Leigh syndrome.

PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 18461509 2007 Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.