rs143747297
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.800 |
CausalMutation |
CLINVAR |
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
|
25058219 |
2014 |
rs143747297
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.800 |
CausalMutation |
CLINVAR |
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
|
23929671 |
2013 |
rs143747297
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
|
22608499 |
2012 |
rs143747297
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.800 |
CausalMutation |
CLINVAR |
Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis.
|
22608499 |
2012 |
rs201544686
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.700 |
GeneticVariation |
CLINVAR |
Genetic defects in mtDNA-encoded protein translation cause pediatric, mitochondrial cardiomyopathy with early-onset brain disease.
|
29440775 |
2018 |
rs201544686
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.700 |
GeneticVariation |
CLINVAR |
The genotypic and phenotypic spectrum of MTO1 deficiency.
|
29331171 |
2018 |
rs201544686
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.700 |
GeneticVariation |
CLINVAR |
MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.
|
23929671 |
2013 |
rs1033653237
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1275100093
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1554148965
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1561954433
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs201544686
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs371179032
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs397518449
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
CA |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs398122419
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs748152539
|
Entrez Id: |
25821 |
Gene Symbol: |
MTO1 |
MTO1
|
COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 10
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|