Variant: rs104894402 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189359
    Alleles of this Variant: G/A;C

rs104894402 in GJB2 gene and DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) PMID 9620796 1998 Connexin 26 gene linked to a dominant deafness.

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

PMID 12786758 2003 A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.

PMID 11313763 2001 Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.

PMID 11439000 2001 Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.

PMID 19384972 2009 Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.

PMID 11354642 2001 De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.

PMID 10807696 2000 A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

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

rs104894402 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 12668604 2003 Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

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

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

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