Variant: rs104894401 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189154
    Alleles of this Variant: C/T

rs104894401 in GJB2 gene and DEAFNESS, AUTOSOMAL DOMINANT 3A (disorder) PMID 17567887 2007 Molecular genetics study of deafness in Brazil: 8-year experience.

PMID 26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.

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

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

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

PMID 11438992 2001 Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

PMID 9620796 1998 Connexin 26 gene linked to a dominant deafness.

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

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

PMID 22991996 2013 Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.

PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

PMID 23856378 2013 Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

PMID 16931589 2006 Detection of mutations in genes associated with hearing loss using a microarray-based approach.

PMID 21040787 2011 Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

PMID 19715472 2009 Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

PMID 20096356 2010 Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

PMID 17485979 2007 High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

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

rs104894401 in GJB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 19715472 2009 Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.

PMID 20096356 2010 Dominant connexin26 mutants associated with human hearing loss have trans-dominant effects on connexin30.

PMID 23856378 2013 Compound heterozygosity for dominant and recessive GJB2 mutations in a Tunisian family and association with successful cochlear implant outcome.

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

PMID 12189487 2002 Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.

PMID 17666888 2007 A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.

PMID 16931589 2006 Detection of mutations in genes associated with hearing loss using a microarray-based approach.

PMID 11438992 2001 Assessment of denaturing high-performance liquid chromatography (DHPLC) in screening for mutations in connexin 26 (GJB2).

PMID 22991996 2013 Identification of a p.R143Q dominant mutation in the gap junction beta-2 gene in three Chinese patients with different hearing phenotypes.

PMID 21040787 2011 Dominant Cx26 mutants associated with hearing loss have dominant-negative effects on wild type Cx26.

PMID 17485979 2007 High incidence of GJB2 mutations during screening of newborns for hearing loss in Austria.

PMID 17567887 2007 Molecular genetics study of deafness in Brazil: 8-year experience.

PMID 24372583 2015 Mutation spectrum and prevalence of BRCA1 and BRCA2 genes in patients with familial and early-onset breast/ovarian cancer from Tunisia.

PMID 26397989 2015 Long-Term Cochlear Implant Outcomes in Children with GJB2 and SLC26A4 Mutations.