Variant: rs28936686 

    present in Gene: SSUH2;CAV3
    present in Chromosome: 3
    Position on Chromosome: 8745688
    Alleles of this Variant: G/A;T

rs28936686 in SSUH2;CAV3 gene and Long QT Syndrome PMID 12666119 2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

PMID 15668980 2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

rs28936686 in SSUH2;CAV3 gene and Rippling muscle disease PMID 19697367 2010 Rippling muscle disease: variable phenotype in a family with five afflicted members.

PMID 15668980 2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.

PMID 12666119 2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.