Variant: rs116840795 

    present in Gene: CAV3;SSUH2
    present in Chromosome: 3
    Position on Chromosome: 8745580
    Alleles of this Variant: G/A

rs116840795 in CAV3;SSUH2 gene and Long QT Syndrome PMID 15099591 2004 A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

PMID 27772553 2017 CAV3 mutation in a patient with transient hyperCKemia and myalgia.

PMID 22581547 2012 Myotonia associated with caveolin-3 mutation.