Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT Cerebellar Atrophy and Changes in Cytokines Associated with the CACNA1A R583Q Mutation in a Russian Familial Hemiplegic Migraine Type 1 Family. 28900389

2017
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT A Single Amino Acid Deletion (ΔF1502) in the S6 Segment of CaV2.1 Domain III Associated with Congenital Ataxia Increases Channel Activity and Promotes Ca2+ Influx. 26716990

2015
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT Congenital ataxia and hemiplegic migraine with cerebral edema associated with a novel gain of function mutation in the calcium channel CACNA1A. 24836863

2014
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 18400034

2008
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT A novel R1347Q mutation in the predicted voltage sensor segment of the P/Q-type calcium-channel alpha-subunit in a family with progressive cerebellar ataxia and hemiplegic migraine. 15032980

2004
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation BEFREE To obtain data from direct gene analysis to test this hypothesis, we investigated 143 patients with common migraine, irrespective of their family history, for the presence of mutations known to result in the FHM phenotype; the mutations V714A, R192Q, R583Q, T666M, V1457L, and 11811L were absent in our patient sample. 12705332

2003
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT Delayed cerebral edema and fatal coma after minor head trauma: role of the CACNA1A calcium channel subunit gene and relationship with familial hemiplegic migraine. 11409427

2001
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 11439943

2001
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT Genetic heterogeneity in Italian families with familial hemiplegic migraine. 10408532

1999
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation BEFREE We analyzed the phenotype-genotype relation in three unrelated FHM families with the calcium channel alpha1A-subunit gene mutations I1811L (two families) and V714A (one family). 9566402

1998
dbSNP: rs121908213
rs121908213
CACNA1A
0.820 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs121908213
rs121908213
CACNA1A
G 0.820 CausalMutation CLINVAR