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 |
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
|
0.800 |
GeneticVariation |
UNIPROT |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
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 |
rs199474826
|
ATP6;ATP8;COX2;COX3
|
Colorectal Carcinoma
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|
rs199474826
|
ATP6;ATP8;COX2;COX3
|
Colorectal Carcinoma
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs199474827
|
ATP6;ATP8;COX1;COX2;COX3
|
Cytochrome-c Oxidase Deficiency
|
A |
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 |
|
|
|
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
CARDIOMYOPATHY, INFANTILE HYPERTROPHIC
|
C |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs1057516062
|
ATP6;ATP8;COX2;COX3;ND3
|
Optic Neuropathy
|
C |
0.700 |
GeneticVariation |
CLINVAR |
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes.
|
28027978 |
2017 |
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Histiocytoid Cardiomyopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
Rapidly progressive infantile cardiomyopathy with mitochondrial respiratory chain complex V deficiency due to loss of ATPase 6 and 8 protein.
|
26803244 |
2016 |
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 |
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 |
rs724159989
|
ATP6;ATP8;COX1;COX2;COX3;TRNS1
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
C |
0.700 |
CausalMutation |
CLINVAR |
Maternally inherited hearing loss is associated with the novel mitochondrial tRNA Ser(UCN) 7505T>C mutation in a Han Chinese family.
|
20153673 |
2010 |
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Demyelinating disease of central and peripheral nervous systems associated with a A8344G mutation in tRNALys.
|
19269823 |
2009 |
rs121434458
|
COX1;COX2;ND2;TRNA
|
MELAS Syndrome
|
A |
0.700 |
CausalMutation |
CLINVAR |
Pathogenic mitochondrial tRNA mutations--which mutations are inherited and why?
|
19718780 |
2009 |
rs387906422
|
ATP6;ATP8;COX2;COX3;ND3;ND4L
|
Histiocytoid Cardiomyopathy
|
C |
0.700 |
CausalMutation |
CLINVAR |
Infantile cardiomyopathy caused by a mutation in the overlapping region of mitochondrial ATPase 6 and 8 genes.
|
19188198 |
2009 |
rs118192098
|
ATP6;ATP8;COX2;COX3;ND3;TRNK
|
MERRF Syndrome
|
G |
0.700 |
CausalMutation |
CLINVAR |
Unusual presentations of patients with the mitochondrial MERRF mutation A8344G.
|
18657354 |
2008 |
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
C |
0.700 |
CausalMutation |
CLINVAR |
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
|
18639500 |
2008 |
rs199474818
|
ATP6;ATP8;COX1;COX2;COX3
|
DEAFNESS, NONSYNDROMIC SENSORINEURAL, MITOCHONDRIAL
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations at position 7445 in the precursor of mitochondrial tRNA(Ser(UCN)) gene in three maternal Chinese pedigrees with sensorineural hearing loss.
|
18639500 |
2008 |