Gene: CACNA1A ×
Source: CURATED ×
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT New mutation of CACNA1A gene in episodic ataxia type 2. 21696515

2011
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT New mutation of CACNA1A gene in episodic ataxia type 2. 21696515

2011
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888

2010
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2. 20129625

2010
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. 19232643

2009
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 18602318

2009
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Late-onset episodic ataxia type 2 associated with a novel loss-of-function mutation in the CACNA1A gene. 19232643

2009
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Episodic ataxia type 2 showing ictal hyperhidrosis with hypothermia and interictal chronic diarrhea due to a novel CACNA1A mutation. 18602318

2009
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 15293273

2004
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690

2004
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. 15173248

2004
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Clinical spectrum of episodic ataxia type 2. 14718690

2004
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Functional implications of a novel EA2 mutation in the P/Q-type calcium channel. 15293273

2004
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Clusters of non-truncating mutations of P/Q type Ca2+ channel subunit Ca(v)2.1 causing episodic ataxia 2. 15173248

2004
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 12420090

2002
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Episodic ataxia type 2. Three novel truncating mutations and one novel missense mutation in the CACNA1A gene. 12420090

2002
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274

2001
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT The Glu 1757 Lys missense mutation is likely to be pathogenic, causing episodic ataxia within a family whose phenotype is indistinguishable from EA2 except for a slightly later age of onset. 11176968

2001
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission. 11723274

2001
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Missense CACNA1A mutation causing episodic ataxia type 2. 11176968

2001
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 10987655

1999
dbSNP: rs121908226
rs121908226
CACNA1A
0.810 GeneticVariation UNIPROT A novel nonsense mutation in CACNA1A causes episodic ataxia and hemiplegia. 10408533

1999
dbSNP: rs121908227
rs121908227
CACNA1A
0.810 GeneticVariation UNIPROT Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM. 10987655

1999