|
rs199476133
|
|
|
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
|
|
|
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
|
rs199476133
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
|
rs199476133
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
|
8602753 |
1996 |
|
rs199476133
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
|
rs199476133
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs199476133
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
|
rs199476133
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
|
1436530 |
1992 |
|
rs199476133
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
Heteroplasmic mtDNA mutation (T----G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high.
|
1550128 |
1992 |
|
rs199476133
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |