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rs121908216

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121908216(A;A)
Make rs121908216(A;G)
ReferenceGRCh38 38.1/141
Chromosome19
Position13235702
GeneCACNA1A
is asnp
is mentioned by
dbSNPrs121908216
ebirs121908216
HLIrs121908216
Exacrs121908216
Varsomers121908216
Maprs121908216
PheGenIrs121908216
hapmaprs121908216
1000 genomesrs121908216
hgdprs121908216
ensemblrs121908216
gopubmedrs121908216
geneviewrs121908216
scholarrs121908216
googlers121908216
pharmgkbrs121908216
gwascentralrs121908216
openSNPrs121908216
23andMers121908216
23andMe allrs121908216
SNP Nexus

SNPshotrs121908216
SNPdbers121908216
MSV3drs121908216
GWAS Ctlgrs121908216
Merged fromRs121909316
Max Magnitude0
OMIM601011
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121908216(A;A)
Alt rs121908216(A;A)
Reference rs121908216(G;G)
Significance Pathogenic
Disease Episodic ataxia type 2
Variation info
Gene CACNA1A
CLNDBN Episodic ataxia type 2
Reversed 1
HGVS NC_000019.9:g.13346516C>T
CLNSRC OMIM Allelic Variant UniProtKB (variants)
CLNACC RCV000009017.3,


[PMID 10987655] Detection of a novel missense mutation and second recurrent mutation in the CACNA1A gene in individuals with EA-2 and FHM.