rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
BEFREE |
The MT-ATP6 m.9185T>C p.Leu220Pro mutation, previously associated with Leigh syndrome, was present in all family members, while the MT-TL1 m.3271T>C mutation, a known cause of MELAS syndrome, was observed in the sole patient with MELAS presentation.
|
24153443 |
2013 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
C |
0.810 |
CausalMutation |
CLINVAR |
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
|
18461509 |
2007 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
C |
0.810 |
CausalMutation |
CLINVAR |
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
|
16217706 |
2005 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
UNIPROT |
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
|
9501263 |
1998 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
rs199476138
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.810 |
GeneticVariation |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
|
19218458 |
2009 |
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
GeneticVariation |
UNIPROT |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
|
0.800 |
GeneticVariation |
UNIPROT |
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
|
18055910 |
2007 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Episodic ataxia and hemiplegia caused by the 8993T->C mitochondrial DNA mutation.
|
18055910 |
2007 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Late onset Leigh syndrome and ataxia due to a T to C mutation at bp 9,185 of mitochondrial DNA.
|
17352390 |
2007 |
rs267606884
|
ATP6;ATP8;COX1;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
|
16407113 |
2006 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, MITOCHONDRIAL TYPE 1
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
|
16049925 |
2005 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
ATAXIA AND POLYNEUROPATHY, ADULT-ONSET
|
|
0.800 |
GeneticVariation |
UNIPROT |
Adult-onset ataxia and polyneuropathy caused by mitochondrial 8993T-->C mutation.
|
16049925 |
2005 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
G |
0.800 |
CausalMutation |
CLINVAR |
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
|
11731285 |
2002 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
G |
0.800 |
CausalMutation |
CLINVAR |
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
|
11245730 |
2001 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
G |
0.800 |
CausalMutation |
CLINVAR |
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
|
11382202 |
2000 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
G |
0.800 |
CausalMutation |
CLINVAR |
The T9176G mutation of human mtDNA gives a fully assembled but inactive ATP synthase when modeled in Escherichia coli.
|
11119722 |
2000 |
rs199474827
|
ATP6;ATP8;COX1;COX2;COX3
|
Cytochrome-c Oxidase Deficiency
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
|
10486321 |
1999 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Fulminant Leigh syndrome and sudden unexpected death in a family with the T9176C mutation of the mitochondrial ATPase 6 gene.
|
9501263 |
1998 |
rs199476133
|
ATP6;ATP8;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
rs199476135
|
ATP6;COX3;ND3;ND4;ND4L
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |