rs199476138
|
|
Leigh Disease
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Variable phenotype including Leigh syndrome with a 9185T>C mutation in the MTATP6 gene.
|
18461509 |
2007 |
rs199476138
|
|
Leigh Disease
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Two new mutations in the MTATP6 gene associated with Leigh syndrome.
|
16217706 |
2005 |
rs199476133
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Leigh syndrome: clinical features and biochemical and DNA abnormalities.
|
8602753 |
1996 |
rs199476133
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
|
8190310 |
1994 |
rs199476133
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.
|
8395787 |
1993 |
rs199476133
|
|
Leigh Disease
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation.
|
1436530 |
1992 |
rs199476133
|
|
Leigh Disease
|
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
|
|
Leigh Disease
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.
|
2137962 |
1990 |
rs199476135
|
|
Leigh Disease
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A point mutation of mitochondrial ATPase 6 gene in Leigh syndrome.
|
11731285 |
2002 |
rs199476135
|
|
Leigh Disease
|
G |
0.800 |
CausalMutation
|
CLINVAR |
The T9176G mtDNA mutation severely affects ATP production and results in Leigh syndrome.
|
11245730 |
2001 |
rs199476135
|
|
Leigh Disease
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A novel mtDNA mutation in the ATPase6 gene studied by E. coli modeling.
|
11382202 |
2000 |
rs199476135
|
|
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 |
rs199476135
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Confirmation that a T-to-C mutation at 9176 in mitochondrial DNA is an additional candidate mutation for Leigh's syndrome.
|
9631394 |
1998 |
rs199476135
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.
|
9270604 |
1997 |
rs199476135
|
|
Leigh Disease
|
C |
0.800 |
CausalMutation
|
CLINVAR |
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
|
7668837 |
1995 |
rs267606891
|
|
Leigh Disease
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Mitochondrial ND3 as the novel causative gene for Leber hereditary optic neuropathy and dystonia.
|
19458970 |
2009 |
rs267606891
|
|
Leigh Disease
|
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 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Novel mutations of ND genes in complex I deficiency associated with mitochondrial encephalopathy.
|
17535832 |
2007 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
De novo mutations in the mitochondrial ND3 gene as a cause of infantile mitochondrial encephalopathy and complex I deficiency.
|
14705112 |
2004 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
A new mitochondrial DNA mutation in ND3 gene causing severe Leigh syndrome with early lethality.
|
14764913 |
2004 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
rs267606890
|
|
Leigh Disease
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.
|
11456298 |
2001 |
rs118192098
|
|
Leigh Disease
|
G |
0.700 |
CausalMutation
|
CLINVAR |
"Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA (""MERRF mutation"")."
|
8170567 |
1993 |
rs118192098
|
|
Leigh Disease
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Clinical spectrum of mitochondrial DNA mutation at base pair 8344.
|
1678125 |
1991 |