{{Rsnum
|rsid=121908227
|Chromosome=19
|Orientation=minus
|geno1=(G;G)
|geno2=(G;T)
|geno3=(T;T)
|Gene=CACNA1A
|position=13261495
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CACNA1A
}}{{omim
|id=601011
|rsnum=121908227
|variant=0022
}}{{ClinVar
|rsid=121908227
|Reversed=1
|FwdREF=T
|FwdALT=G
|REF=A
|ALT=C
|RSPOS=13372309
|CHROM=19
|dbSNPBuildID=132
|SSR=0
|SAO=1
|VP=0x050368000000000002110100
|GENEINFO=CACNA1A:773
|GENE_NAME=CACNA1A
|GENE_ID=773
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000019.9:g.13372309A>C
|CLNSRC=OMIM Allelic Variant; UniProtKB (variants)
|CLNORIGIN=1
|CLNSRCID=601011.0022; VAR_043832
|CLNSIG=5
|CLNCUI=C1720416
|CLNDBN=Episodic ataxia type 2
|Disease=Episodic ataxia type 2
|CLNACC=RCV000009033.3
|Tags=RV;PM;PMC;S3D;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT
|CLNDSDBID=NBK1501:C1720416:108500:97:420932006
}}{{PMID Auto
|PMID=11723274
|Title=Loss-of-function EA2 mutations are associated with impaired neuromuscular transmission.
}}

{{PMID Auto
|PMID=14718690
|Title=Clinical spectrum of episodic ataxia type 2.
}}