Variant: rs104894403 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189386
    Alleles of this Variant: C/A;G;T

rs104894403 in GJB2 gene and Mutilating keratoderma PMID 18688874 2009 New evidence for the correlation of the p.G130V mutation in the GJB2 gene and syndromic hearing loss with palmoplantar keratoderma.

PMID 10369869 1999 A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.

PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

PMID 15954104 2005 Mutation analysis of the GJB2 (connexin 26) gene in Egypt.

rs104894403 in GJB2 gene and Palmoplantar Keratoderma with Deafness PMID 10757647 2000 Connexin mutations associated with palmoplantar keratoderma and profound deafness in a single family.

PMID 9856479 1998 Functional defects of Cx26 resulting from a heterozygous missense mutation in a family with dominant deaf-mutism and palmoplantar keratoderma.

PMID 17993581 2008 A novel missense mutation in GJB2 disturbs gap junction protein transport and causes focal palmoplantar keratoderma with deafness.

PMID 12372058 2002 The novel R75Q mutation in the GJB2 gene causes autosomal dominant hearing loss and palmoplantar keratoderma in a Turkish family.

PMID 15996214 2005 Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.

PMID 10633135 2000 A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350).

PMID 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.