Gene entry
CAV3
caveolin 3
- Chromosome
- 3
- Cytoband
- 3p25.3
- Variants (rsID)
- 23
CAV3 is a protein-coding gene, meaning the body reads it as instructions to build a protein, located on chromosome 3 (region 3p25.3). Its official name is “caveolin 3”. The reference table lists 23 variants (rsID) for this gene.
Clinically classified variants
17 reference-table entries with clinical significance.
- rs11922879Benignsingle nucleotide variant
- rs149375325Benignsingle nucleotide variantLong QT syndrome|Cardiovascular phenotype
- rs72546667Benignsingle nucleotide variantRippling muscle disease 2|Limb-girdle muscular dystrophy|Cardiovascular phenotype|Limb-Girdle Muscular Dystrophy, Dominant|Long QT syndrome 1|Long QT syndrome|Cardiomyopathy|Caveolinopathy
- rs116840771Conflicting interpretationssingle nucleotide variantLimb-Girdle Muscular Dystrophy, Dominant|Caveolinopathy|Congenital long QT syndrome|Toe walking
- rs116840776Conflicting interpretationssingle nucleotide variantRippling muscle disease 2|Limb-girdle muscular dystrophy|Cardiovascular phenotype|Distal myopathy, Tateyama type|Long QT syndrome 9|Elevated circulating creatine kinase concentration|Rippling muscle disease 2|Hypertrophic cardiomyopathy 1|Cardiomyopathy|Long QT syndrome 1|Long QT syndrome|Caveolinopathy
- rs116840795Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiomyopathy
- rs140575619Conflicting interpretationssingle nucleotide variantLong QT syndrome|Cardiomyopathy|Caveolinopathy
- rs147250678Conflicting interpretationssingle nucleotide variantCardiomyopathy|Long QT syndrome|Caveolinopathy|Limb-Girdle Muscular Dystrophy, Dominant|Congenital long QT syndrome|Cardiovascular phenotype
- rs148846096Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome
- rs199476337Conflicting interpretationssingle nucleotide variantLong QT syndrome
- rs201593267Conflicting interpretationssingle nucleotide variantCardiovascular phenotype|Long QT syndrome|Caveolinopathy
- rs28936686Conflicting interpretationssingle nucleotide variantRippling muscle disease 2, autosomal recessive|Long QT syndrome|Cardiovascular phenotype|Rippling muscle disease 2
- rs72546668Conflicting interpretationssingle nucleotide variantLong QT syndrome 9|Long QT syndrome 2/9, digenic|Long QT syndrome|Cardiovascular phenotype|Cardiomyopathy|Long QT syndrome 1|Caveolinopathy
- rs772475990Conflicting interpretationssingle nucleotide variantCardiomyopathy
- rs237867Likely benignsingle nucleotide variant
- rs116840773Likely pathogenicsingle nucleotide variantRippling muscle disease 2
- rs28936685Uncertain significancesingle nucleotide variantRippling muscle disease 2|Long QT syndrome|SUDDEN INFANT DEATH SYNDROME
Other listed variants
Public references
Data from the institutional reference table and public NCBI annotation. For education only; not a substitute for medical or genetic counselling.