Variant: rs267607457 

    present in Gene: KRT5
    present in Chromosome: 12
    Position on Chromosome: 52519159
    Alleles of this Variant: A/T

rs267607457 in KRT5 gene and Weber-Cockayne Syndrome PMID 12707098 2003 Epidermolysis bullosa simplex in Israel: clinical and genetic features.

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

PMID 15347343 2004 A new mutation in the linker 12 domain of keratin 5 in a Chinese family with Weber-Cockayne epidermolysis bullosa simplex.

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 7520042 1994 Mutations in the non-helical linker segment L1-2 of keratin 5 in patients with Weber-Cockayne epidermolysis bullosa simplex.

PMID 8595431 1995 Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in Linker 12 domain of keratin 5.

PMID 7688477 1993 The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

PMID 15140024 2004 A mutation (N177S) in the structurally conserved helix initiation peptide motif of keratin 5 causes a mild EBS phenotype.

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 8807337 1996 Three keratin gene mutations account for the majority of dominant simplex epidermolysis bullosa cases within the population of Ireland.

PMID 7506097 1993 Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function.

PMID 14723728 2004 A new keratin 5 mutation (K199T) in a family with Weber-Cockayne epidermolysis bullosa simplex.

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

PMID 10782015 2000 K5 D328E: a novel missense mutation in the linker 12 domain of keratin 5 associated with epidermolysis bullosa simplex (Weber-Cockayne).

PMID 9804357 1998 Novel K5 and K14 mutations in German patients with the Weber-Cockayne variant of epidermolysis bullosa simplex.