rs199476138
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
|
18461509 |
2007 |
rs199476138
|
|
|
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
|
|
C |
0.810 |
CausalMutation |
CLINVAR |
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
|
16217706 |
2005 |
rs199476138
|
|
|
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
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
De novo mtDNA nt 8993 (T-->G) mutation resulting in Leigh syndrome.
|
9556461 |
1998 |
rs199476138
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
rs199476138
|
|
|
0.810 |
GeneticVariation |
UNIPROT |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs267606891
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
|
19458970 |
2009 |
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 |
rs199476135
|
|
|
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 |
rs267606891
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
|
17152068 |
2007 |
rs267606891
|
|
A |
0.800 |
CausalMutation |
CLINVAR |
A novel recurrent mitochondrial DNA mutation in ND3 gene is associated with isolated complex I deficiency causing Leigh syndrome and dystonia.
|
17152068 |
2007 |
rs267606893
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Fatal manifestation of a de novo ND5 mutation: Insights into the pathogenetic mechanisms of mtDNA ND5 gene defects.
|
17317336 |
2007 |
rs267606893
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease.
|
17400793 |
2007 |
rs199476109
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.
|
16337195 |
2005 |
rs199476109
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
rs199476109
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
rs199476109
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
rs199476109
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
rs267606893
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A missense mutation in the mitochondrial ND5 gene associated with a Leigh-MELAS overlap syndrome.
|
12796552 |
2003 |
rs267606893
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
rs199476135
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
|
11731285 |
2002 |
rs267606893
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
|
11938446 |
2002 |
rs267606893
|
|
C |
0.800 |
CausalMutation |
CLINVAR |
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
|
11938446 |
2002 |
rs267606893
|
|
C |
0.800 |
GeneticVariation |
CLINVAR |
Leigh disease associated with a novel mitochondrial DNA ND5 mutation.
|
11938446 |
2002 |