Variant: rs201045495 

    present in Gene: DST
    present in Chromosome: 6
    Position on Chromosome: 56620664
    Alleles of this Variant: G/A

rs201045495 in DST gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 2 PMID 20164846 2010 A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.

PMID 25059916 2015 Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

rs201045495 in DST gene and NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE VI PMID 25059916 2015 Founder mutation in dystonin-e underlying autosomal recessive epidermolysis bullosa simplex in Kuwait.

PMID 20164846 2010 A homozygous nonsense mutation within the dystonin gene coding for the coiled-coil domain of the epithelial isoform of BPAG1 underlies a new subtype of autosomal recessive epidermolysis bullosa simplex.