rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
BEFREE |
A novel mitochondrial DNA nucleotide transversion, C14482A (M64I), different from the previously reported C14482G (M64I), was found to cause Leber's hereditary optic neuropathy with visual recovery in an Italian family.
|
12112086 |
2002 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
11133798 |
2001 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
11133798 |
2001 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
BEFREE |
Biochemical features of mtDNA 14484 (ND6/M64V) point mutation associated with Leber's hereditary optic neuropathy.
|
10072046 |
1999 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
|
10447650 |
1999 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
|
10447650 |
1999 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
|
9452107 |
1998 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
|
9452107 |
1998 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
|
8854108 |
1996 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy: clinical and molecular genetic results obtained in a family with a new point mutation at nucleotide position 14498 in the ND 6 gene.
|
8854108 |
1996 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
C |
0.810 |
CausalMutation |
CLINVAR |
Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.
|
8470982 |
1993 |
rs199476104
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
|
1417830 |
1992 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.810 |
GeneticVariation |
UNIPROT |
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
|
1417830 |
1992 |
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
G |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs199476108
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
A |
0.810 |
CausalMutation |
CLINVAR |
|
|
|
rs199476109
|
CYTB;ND5;ND6
|
Leigh Disease
|
C |
0.800 |
CausalMutation |
CLINVAR |
Free radicals-mediated damage in transmitochondrial cells harboring the T14487C mutation in the ND6 gene of mtDNA.
|
16337195 |
2005 |
rs387906425
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation |
UNIPROT |
The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.
|
16240359 |
2005 |
rs199476109
|
CYTB;ND5;ND6
|
Leigh Disease
|
C |
0.800 |
CausalMutation |
CLINVAR |
Clinical and molecular findings in children with complex I deficiency.
|
15576045 |
2004 |
rs199476109
|
CYTB;ND5;ND6
|
Leigh Disease
|
|
0.800 |
GeneticVariation |
UNIPROT |
Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene.
|
14595656 |
2003 |
rs199476109
|
CYTB;ND5;ND6
|
Leigh Disease
|
C |
0.800 |
CausalMutation |
CLINVAR |
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency.
|
14684687 |
2003 |
rs199476109
|
CYTB;ND5;ND6
|
Leigh Disease
|
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 |
rs199476106
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
11133798 |
2001 |
rs199476107
|
CYTB;ND5;ND6
|
MELAS Syndrome
|
|
0.800 |
GeneticVariation |
UNIPROT |
An mtDNA mutation, 14453G-->A, in the NADH dehydrogenase subunit 6 associated with severe MELAS syndrome.
|
11781695 |
2001 |
rs397515506
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation |
UNIPROT |
The mitochondrial ND6 gene is a hot spot for mutations that cause Leber's hereditary optic neuropathy.
|
11133798 |
2001 |
rs199476106
|
CYTB;ND5;ND6
|
Optic Atrophy, Hereditary, Leber
|
|
0.800 |
GeneticVariation |
UNIPROT |
Leber's hereditary optic neuropathy: clinical and molecular genetic findings in a patient with a new mutation in the ND6 gene.
|
10447650 |
1999 |