Variant: rs111033451 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189563
    Alleles of this Variant: G/A

rs111033451 in GJB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 12865758 2004 Frequency and distribution of GJB2 (connexin 26) and GJB6 (connexin 30) mutations in a large North American repository of deaf probands.

PMID 25085072 2014 Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.

rs111033451 in GJB2 gene and Dysmorphic features PMID 21465647 2011 Vestibular dysfunction in DFNB1 deafness.

PMID 15040442 2004 Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics.

PMID 15482471 2004 Expanding the phenotypic spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missense mutation in GJB2.

PMID 15365987 2004 GJB2: the spectrum of deafness-causing allele variants and their phenotype.

PMID 18804553 2009 Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?

PMID 12072059 2002 HID and KID syndromes are associated with the same connexin 26 mutation.

PMID 11918723 2002 A novel connexin 26 mutation in a patient diagnosed with keratitis-ichthyosis-deafness syndrome.

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

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

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

PMID 25937001 2015 Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings.

PMID 11493200 2001 Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.

PMID 26940866 2016 Health and population effects of rare gene knockouts in adult humans with related parents.