{{Rsnum
|rsid=72546668
|Gene=CAV3
|Chromosome=3
|position=8745644
|Orientation=plus
|GMAF=0.001837
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=CAV3,SSUH2
}}{{omim
|id=601253
|rsnum=72546668
|variant=0018
}}

{{ClinVar
|rsid=72546668
|Reversed=0
|FwdREF=C
|FwdALT=A,T
|REF=C
|ALT=A,T
|RSPOS=8787330
|CHROM=3
|GMAF=0.0018
|dbSNPBuildID=130
|SSR=0
|SAO=1
|VP=0x050178000000040116110100
|GENEINFO=CAV3:859
|GENE_NAME=CAV3
|GENE_ID=859
|WGT=0
|VC=SNV
|CLNALLE=2
|CLNHGVS=NC_000003.11:g.8787330C>T
|CLNORIGIN=0
|CLNSRCID=
6279; CAV3_00030; 601253.0018
|CLNSIG=5
|CLNCUI=
|CLNACC=
RCV000008790.1; RCV000008791.1; RCV000024406.2; RCV000039801.1
|Tags=PM;TPA;PMC;SLO;VLD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9982; 0.001837
|CLNDBN=Long QT syndrome 9; Long QT syndrome 2/9, digenic; not provided; AllHighlyPenetrant
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet; MedGen
|CLNDSDBID=NBK1129:C2678485:611818:101016; C3279093; CN169374
|CLNSRC=Emory University; Leiden Muscular Dystrophy pages (CAV3); OMIM Allelic Variant
|COMMON=1
|Disease=Long QT syndrome 9; Long QT syndrome 2/9; not provided; AllHighlyPenetrant
}}

{{PMID|16770780}} CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

{{PMID|17060380}} Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

{{PMID|17275750|OA=1
}} Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

{{PMID|18253147}} Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

{{PMID|16770780}} CAV3 gene mutation analysis in patients with idiopathic hyper-CK-emia.

{{PMID|17060380}} Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.

{{PMID|17210839}} Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.

{{PMID|17275750|OA=1
}} Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

{{PMID|18253147}} Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

{{PMID|22245016|OA=1
}} Rippling muscle disease and facioscapulohumeral dystrophy-like phenotype in a patient carrying a heterozygous CAV3 T78M mutation and a D4Z4 partial deletion: Further evidence for "double trouble" overlapping syndromes.

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}