Variant: rs121912475 

    present in Gene: KRT5
    present in Chromosome: 12
    Position on Chromosome: 52519160
    Alleles of this Variant: C/A;T

rs121912475 in KRT5 gene and Epidermolysis Bullosa Simplex Kobner PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 7534039 1995 Epidermolysis bullosa simplex: a keratin 5 mutation is a fully dominant allele in epidermal cytoskeleton function.

PMID 7686424 1993 Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex.

PMID 11407988 2001 A novel keratin 5 mutation (K5V186L) in a family with EBS-K: a conservative substitution can lead to development of different disease phenotypes.

PMID 21623745 2011 Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.

PMID 9989794 1999 Identification of novel and known mutations in the genes for keratin 5 and 14 in Danish patients with epidermolysis bullosa simplex: correlation between genotype and phenotype.

PMID 9740251 1998 A novel mutation in the L12 domain of keratin 5 in the Köbner variant of epidermolysis bullosa simplex.