Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation BEFREE Methods Eight patients from a multigenerational FHM type 1 family harbouring a T666M mutation in the CACNA1A gene were referred to our ataxia outpatient clinic. 28856914

2018
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 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: rs121908212
rs121908212
CACNA1A
0.830 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: rs121908212
rs121908212
CACNA1A
0.830 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: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation UNIPROT CACNA1A R1347Q: a frequent recurrent mutation in hemiplegic migraine. 18400034

2008
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 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: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation BEFREE The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM families at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study). 12756131

2003
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation BEFREE Bearing in mind that, in particular, the T666M mutation contributes to a large proportion of FHM linked to chromosome 19, we conclude that common migraine is distinct from FHM in its molecular basis and, therefore, most likely also in its pathophysiology. 12705332

2003
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 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: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation UNIPROT The clinical spectrum of familial hemiplegic migraine associated with mutations in a neuronal calcium channel. 11439943

2001
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation UNIPROT Genetic heterogeneity in Italian families with familial hemiplegic migraine. 10408532

1999
dbSNP: rs121908212
rs121908212
CACNA1A
0.830 GeneticVariation UNIPROT Familial hemiplegic migraine and episodic ataxia type-2 are caused by mutations in the Ca2+ channel gene CACNL1A4. 8898206

1996
dbSNP: rs121908212
rs121908212
CACNA1A
A 0.830 CausalMutation CLINVAR

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: rs121908214
rs121908214
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: rs121908225
rs121908225
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: rs121908214
rs121908214
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: rs121908225
rs121908225
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: rs121908214
rs121908214
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: rs121908225
rs121908225
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: rs121908214
rs121908214
CACNA1A
0.820 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of channelopathies, epilepsies, migraine, stroke, and dementias. 20298421

2010