Variant: rs199476133 

    present in Gene: ND3;COX3;ND4L;ND4;ATP8;ATP6
    present in Chromosome: MT
    Position on Chromosome: 8993
    Alleles of this Variant: T/C;G

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and ATAXIA AND POLYNEUROPATHY, ADULT-ONSET PMID 16049925 2005 Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

PMID 18055910 2007 Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and Ataxia PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and Leigh Disease PMID 9270604 1997 Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.

PMID 8190310 1994 A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

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

PMID 8602753 1996 Leigh syndrome: clinical features and biochemical and DNA abnormalities.

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

PMID 1436530 1992 Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.

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

PMID 1550128 1992 Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.

PMID 2137962 1990 A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1 PMID 18055910 2007 Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.

PMID 16049925 2005 Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.

rs199476133 in ND3;COX3;ND4L;ND4;ATP8;ATP6 gene and Neuropathy ataxia and retinis pigmentosa PMID 8395787 1993 A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.

PMID 1539598 1992 Prenatal diagnosis of mitochondrial DNA8993 T----G disease.

PMID 8190310 1994 A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.

PMID 2137962 1990 A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

PMID 8095070 1993 Maternally inherited Leigh syndrome.