Variant: rs57121345 

    present in Gene: KRT14
    present in Chromosome: 17
    Position on Chromosome: 41586404
    Alleles of this Variant: T/G

rs57121345 in KRT14 gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 PMID 7526933 1993 A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.