Variant: rs121912476 

    present in Gene: KRT5
    present in Chromosome: 12
    Position on Chromosome: 52516824
    Alleles of this Variant: C/T

rs121912476 in KRT5 gene and EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1 PMID 11973334 2002 Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly.