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rs121908230

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908230(A;A)
Make rs121908230(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13262789
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908230
ebirs121908230
HLIrs121908230
Exacrs121908230
Varsomers121908230
Maprs121908230
PheGenIrs121908230
hapmaprs121908230
1000 genomesrs121908230
hgdprs121908230
ensemblrs121908230
gopubmedrs121908230
geneviewrs121908230
scholarrs121908230
googlers121908230
pharmgkbrs121908230
gwascentralrs121908230
openSNPrs121908230
23andMers121908230
23andMe allrs121908230
SNP Nexus

SNPshotrs121908230
SNPdbers121908230
MSV3drs121908230
GWAS Ctlgrs121908230
Merged fromRs121909328
Max Magnitude0
OMIM601011
Desc
Variant0027
Relatedalso
ClinVar
Risk rs121908230(A;A)
Alt rs121908230(A;A)
Reference rs121908230(G;G)
Significance Pathogenic
Disease Familial hemiplegic migraine type 1
Variation info
Gene CACNA1A
CLNDBN Familial hemiplegic migraine type 1
Reversed 1
HGVS NC_000019.9:g.13373603C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009039.3,


[PMID 15032980] 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.