Variant: rs199476135 

    present in Gene: ND4;ND4L;ND3;COX3;ATP6
    present in Chromosome: MT
    Position on Chromosome: 9176
    Alleles of this Variant: T/C;G

rs199476135 in ND4;ND4L;ND3;COX3;ATP6 gene and Leigh Disease PMID 9556461 1998 De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.

PMID 9631394 1998 Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for 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 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 11119722 2000 The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.

PMID 11731285 2002 A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.

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

PMID 11382202 2000 A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.

PMID 9501263 1998 Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.

PMID 7668837 1995 A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.

PMID 11245730 2001 The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.

rs199476135 in ND4;ND4L;ND3;COX3;ATP6 gene and Striatonigral Degeneration, Infantile, Mitochondrial PMID 7668837 1995 A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.