rs267606899
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
T
0.800
CausalMutation
CLINVAR
rs267606899
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
When does bilateral optic atrophy become Leber hereditary optic neuropathy?
8213825
1993
rs267606899
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
1900003
1991
rs267606899
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
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
rs267606899
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
1732158
1992
rs1131692063
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
A
0.700
GeneticVariation
CLINVAR
The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy.
27164671
2016
rs1131692063
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
A
0.700
GeneticVariation
CLINVAR
Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy.
12736867
2003
rs199974018
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
C
0.700
CausalMutation
CLINVAR
rs267606895
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
C
0.700
CausalMutation
CLINVAR
rs267606898
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
A
0.700
CausalMutation
CLINVAR
The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.
16816025
2006
rs267606898
×
Entrez Id:
4519;4540
Gene Symbol:
CYTB;ND5
CYTB;ND5
Optic Atrophy, Hereditary, Leber
A
0.700
CausalMutation
CLINVAR
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
18332249
2008
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
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
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
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 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
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
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
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
rs199476108
CYTB;ND5;ND6
Optic Atrophy, Hereditary, Leber
G
0.810
CausalMutation
CLINVAR
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
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
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
Leber's hereditary optic neuropathy in Indonesia: two families with the mtDNA 11778G>A and 14484T>C mutations.
9452107
1998