{{Rsnum
|rsid=79891110
|Chromosome=12
|Orientation=plus
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene=CACNA1C
|position=2504944
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|Gene_s=CACNA1C
}}{{omim
|id=114205
|rsnum=79891110
|variant=0001
}}{{ClinVar
|rsid=79891110
|Reversed=0
|FwdREF=G
|FwdALT=A
|REF=G
|ALT=A
|RSPOS=2614110
|CHROM=12
|dbSNPBuildID=131
|SSR=0
|SAO=1
|VP=0x050168000000000002110100
|GENEINFO=CACNA1C:775
|GENE_NAME=CACNA1C
|GENE_ID=775
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000012.11:g.2614110G>A
|CLNSRC=GeneReviews; OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=NBK1403; 114205.0001
|CLNSIG=5
|CLNCUI=C1832916; C1832916
|CLNDBN=Timothy syndrome; not provided
|Disease=Timothy syndrome; not provided
|CLNACC=RCV000019199.26; RCV000058285.1
|Tags=PM;PMC;SLO;OTHERKG;LSD;OM
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:Orphanet
|CLNDSDBID=NBK1403:C1832916:601005:65283:768
}}{{PMID Auto
|PMID=15454078
|Title=Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.
}}

{{PMID Auto
|PMID=15863612
|Title=Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.
|OA=1
}}

{{PMID Auto
|PMID=17224476
|Title=Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death.
|OA=1
}}

{{PMID Auto
|PMID=19074970
|Title=The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.
|OA=1
}}