rs13087941
This variant is located in the CAV3 gene.
▶ClinVar annotation
not provided; not specified; Cardiovascular phenotype; Congenital long QT syndrome; Long QT syndrome; Caveolinopathy; Limb-Girdle Muscular Dystrophy, Dominant; Rippling muscle disease 2
View on ClinVar →About CAV3
This gene encodes a caveolin family member, which functions as a component of the caveolae plasma membranes found in most cell types. Caveolin proteins are proposed to be scaffolding proteins for organizing and concentrating certain caveolin-interacting molecules. Mutations identified in this gene lead to interference with protein oligomerization or intra-cellular routing, disrupting caveolae formation and resulting in Limb-Girdle muscular dystrophy type-1C (LGMD-1C), hyperCKemia or rippling muscle disease (RMD). Alternative splicing has been identified for this locus, with inclusion or exclusion of a differentially spliced intron. In addition, transcripts utilize multiple polyA sites and contain two potential translation initiation sites. [provided by RefSeq, Jul 2008]
View all CAV3 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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