rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs121908217
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive ataxia due to a missense mutation in a calcium-channel gene.
|
9345107 |
1997 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Progressive ataxia due to a missense mutation in a calcium-channel gene.
|
9345107 |
1997 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.
|
20682717 |
2010 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood.
|
24418350 |
2014 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias.
|
20050888 |
2010 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Autosomal dominant cerebellar ataxia (SCA6) associated with small polyglutamine expansions in the alpha 1A-voltage-dependent calcium channel.
|
8988170 |
1997 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Early onset, non fluctuating spinocerebellar ataxia and a novel missense mutation in CACNA1A gene.
|
16325861 |
2006 |
rs121908215
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia.
|
29053796 |
2017 |
rs886037945
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs863224852
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs794727411
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs121909326
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121909324
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121908247
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p.
|
9302278 |
1997 |
rs121908247
|
|
Spinocerebellar Ataxia Type 6 (disorder)
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Progressive ataxia due to a missense mutation in a calcium-channel gene.
|
9345107 |
1997 |