rs1567379016
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
C |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs1567380076
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387907126
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387907127
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs397514578
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs587778771
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Identification of PRRT2 as the causative gene of paroxysmal kinesigenic dyskinesias.
|
22120146 |
2011 |
rs587778771
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Targeted genomic sequencing identifies PRRT2 mutations as a cause of paroxysmal kinesigenic choreoathetosis.
|
22131361 |
2012 |
rs587778771
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Mutations in PRRT2 result in paroxysmal dyskinesias with marked variability in clinical expression.
|
22209761 |
2012 |
rs587778771
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.
|
22101681 |
2011 |
rs587778771
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
GC |
0.700 |
CausalMutation |
CLINVAR |
The evolving spectrum of PRRT2-associated paroxysmal diseases.
|
26598493 |
2015 |
rs730882067
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
TC |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs730882068
|
PRRT2;LOC112268170
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
CT |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs387907125
|
PAGR1;PRRT2
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions.
|
22832103 |
2012 |
rs387907125
|
PAGR1;PRRT2
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
|
0.800 |
GeneticVariation |
UNIPROT |
PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome.
|
22243967 |
2012 |
rs387907125
|
PAGR1;PRRT2
|
Infantile convulsions and paroxysmal choreoathetosis, familial (disorder)
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|