Variant: rs267607456 

    present in Gene: KRT5
    present in Chromosome: 12
    Position on Chromosome: 52519802
    Alleles of this Variant: C/A;G

rs267607456 in KRT5 gene and Epidermolysis Bullosa Herpetiformis Dowling-Meara PMID 8757772 1996 A novel keratin K5 gene mutation in Dowling-Meara epidermolysis bullosa simplex.

PMID 12655565 2003 Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.

PMID 9036937 1997 Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.

PMID 16882168 2006 Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.

PMID 10730767 2000 Laryngeal involvement in the Dowling-Meara variant of epidermolysis bullosa simplex with keratin mutations of severely disruptive potential.

PMID 1372711 1992 A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering.

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 9406827 1997 A novel mutation in the helix termination peptide of keratin 5 causing epidermolysis bullosa simplex Dowling-Meara.

PMID 16786515 2006 Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

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