rs267606884
ATP6;ATP8;COX1;COX2;COX3
Colorectal Carcinoma
0.800
GeneticVariation
UNIPROT
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
19218458
2009
rs281865417
COX1;COX2
Colorectal Carcinoma
0.800
GeneticVariation
UNIPROT
A mitochondrial DNA mutation linked to colon cancer results in proton leaks in cytochrome c oxidase.
19218458
2009
rs267606884
ATP6;ATP8;COX1;COX2;COX3
Colorectal Carcinoma
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
16407113
2006
rs281865417
COX1;COX2
Colorectal Carcinoma
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission.
16407113
2006
rs199474827
ATP6;ATP8;COX1;COX2;COX3
Cytochrome-c Oxidase Deficiency
0.800
GeneticVariation
UNIPROT
A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy.
10486321
1999
rs199476115
×
Entrez Id:
4512;4536
Gene Symbol:
COX1;ND2
COX1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
1732158
1992
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
1417830
1992
rs199476115
×
Entrez Id:
4512;4536
Gene Symbol:
COX1;ND2
COX1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
1900003
1991
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Electron transfer properties of NADH:ubiquinone reductase in the ND13460 and the ND411778 mutations of the Leber hereditary optic neuroretinopathy (LHON).
1959619
1991
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
1674640
1991
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.
1928099
1991
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Alternative, simultaneous complex I mitochondrial DNA mutations in Leber's hereditary optic neuropathy.
1900003
1991
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
0.800
GeneticVariation
UNIPROT
Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.
2018041
1991
rs199474827
ATP6;ATP8;COX1;COX2;COX3
Cytochrome-c Oxidase Deficiency
A
0.800
CausalMutation
CLINVAR
rs199476115
×
Entrez Id:
4512;4536
Gene Symbol:
COX1;ND2
COX1;ND2
Optic Atrophy, Hereditary, Leber
A
0.800
CausalMutation
CLINVAR
rs199476119
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
C
0.800
CausalMutation
CLINVAR
rs267606884
ATP6;ATP8;COX1;COX2;COX3
Colorectal Carcinoma
C
0.800
CausalMutation
CLINVAR
rs281865417
COX1;COX2
Colorectal Carcinoma
A
0.800
CausalMutation
CLINVAR
rs786200950
COX1;COX2;ND2;TRNA
Mitochondrial Myopathies
A
0.700
CausalMutation
CLINVAR
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
25873012
2015
rs786200951
COX1;COX2;ND2;TRNA
Mitochondrial Myopathies
A
0.700
CausalMutation
CLINVAR
Pathogenic mitochondrial mt-tRNA(Ala) variants are uniquely associated with isolated myopathy.
25873012
2015
rs28616230
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
A
0.700
GeneticVariation
CLINVAR
Association of the mtDNA m.4171C>A/MT-ND1 mutation with both optic neuropathy and bilateral brainstem lesions.
24884847
2014
rs28616230
COX1;ND1;ND2
Optic Atrophy, Hereditary, Leber
A
0.700
GeneticVariation
CLINVAR
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.
22879922
2012
rs199476123
COX1;ND1;ND2
Leigh Disease
A
0.700
CausalMutation
CLINVAR
Respiratory chain complex I deficiency caused by mitochondrial DNA mutations.
21364701
2011
rs1569484151
ATP6;ATP8;COX1;COX2;COX3;TRNS1
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
T
0.700
CausalMutation
CLINVAR
Role of the mitochondrial mutations, m.827A>G and the novel m.7462C>T, in the origin of hearing loss.
20722495
2010
rs387906419
ATP6;ATP8;COX1;COX2;COX3;TRNS1
MELAS Syndrome
A
0.700
CausalMutation
CLINVAR
Extensive screening system using suspension array technology to detect mitochondrial DNA point mutations.
20064630
2010