rs28937899
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
The recessive mode of inheritance of MGA type III as a result of the p.Q139X mutation is supported by the carrier status of the unaffected father.
|
18985435 |
2008 |
rs28937899
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
|
|
|
rs80356523
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Atypical presentation of Costeff syndrome-severe psychomotor involvement and electrical status epilepticus during slow wave sleep.
|
26190011 |
2015 |
rs80356525
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Clinical and molecular genetic findings in autosomal dominant OPA3-related optic neuropathy.
|
25159689 |
2015 |
rs80356523
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Costeff syndrome: clinical features and natural history.
|
25201222 |
2014 |
rs80356525
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
A novel heterozygous OPA3 mutation located in the mitochondrial target sequence results in altered steady-state levels and fragmented mitochondrial network.
|
24136862 |
2013 |
rs1555732963
|
|
TC |
0.700 |
GeneticVariation |
CLINVAR |
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
|
20350831 |
2010 |
rs1555736803
|
|
CT |
0.700 |
GeneticVariation |
CLINVAR |
OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria.
|
20350831 |
2010 |
rs80356525
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
OPA3 gene mutations responsible for autosomal dominant optic atrophy and cataract.
|
15342707 |
2004 |
rs80356523
|
|
G |
0.700 |
CausalMutation |
CLINVAR |
Type III 3-methylglutaconic aciduria (optic atrophy plus syndrome, or Costeff optic atrophy syndrome): identification of the OPA3 gene and its founder mutation in Iraqi Jews.
|
11668429 |
2001 |
rs1057516497
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1382779104
|
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555736793
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1555736814
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs80356524
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs80356526
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|