{{Rsnum
|rsid=80338778
|Chromosome=1
|Orientation=minus
|geno1=(C;C)
|geno2=(C;G)
|geno3=(G;G)
|Gene=CACNA1S
|position=201077916
|Gene_s=CACNA1S
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
}}{{ClinVar
|rsid=80338778
|Reversed=1
|FwdREF=C
|FwdALT=G,T
|REF=G
|ALT=A,C
|RSPOS=201077916
|CHROM=1
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000a05000002110100
|GENEINFO=CACNA1S:779
|GENE_NAME=CACNA1S
|GENE_ID=779
|WGT=1
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000001.11:g.201077916G>C
|CLNSRC=ClinVar; GeneReviews
|CLNORIGIN=0
|CLNSRCID=NM_000069.2:c.1582C>G; NBK1338
|CLNSIG=5
|CLNCUI=CN031165
|CLNDBN=Hypokalemic periodic paralysis 1
|Disease=Hypokalemic periodic paralysis 1
|CLNACC=RCV000020093.1
|Tags=RV;PM;PMC;SLO;NSM;REF;ASP;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:GeneReviews:MedGen:OMIM:Orphanet
|CLNDSDBID=NBK1338:NBK1496:CN031165:170400:ORPHA681
}}{{PMID|7987325}} A calcium channel mutation causing hypokalemic periodic paralysis.

{{PMID|11353725}} Hypokalaemic periodic paralysis type 2 caused by mutations at codon 672 in the muscle sodium channel gene SCN4A.

{{PMID|15726306|OA=1
}} Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a Chinese family.