Variant: rs35887622 

    present in Gene: GJB2
    present in Chromosome: 13
    Position on Chromosome: 20189481
    Alleles of this Variant: A/C;G

rs35887622 in GJB2 gene and DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder) PMID 11134236 2001 Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.

PMID 12384501 2003 Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

PMID 12497637 2003 Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.

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

PMID 12176036 2002 Hearing loss: frequency and functional studies of the most common connexin26 alleles.

PMID 10903123 2000 Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.

PMID 10556284 1999 Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.

PMID 16222667 2005 Connexin 26 variants and auditory neuropathy/dys-synchrony among children in schools for the deaf.

PMID 17935238 2007 M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.

PMID 14694360 2004 Clinical evidence of the nonpathogenic nature of the M34T variant in the connexin 26 gene.

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

PMID 20708129 2010 Prevalence of c.35delG and p.M34T mutations in the GJB2 gene in Estonia.

PMID 16849369 2006 Pathogenetic role of the deafness-related M34T mutation of Cx26.

PMID 15033936 2004 Aberrant gating, but a normal expression pattern, underlies the recessive phenotype of the deafness mutant Connexin26M34T.

PMID 16380907 2005 GJB2 mutations and degree of hearing loss: a multicenter study.

PMID 15070423 2004 Molecular epidemiology of DFNB1 deafness in France.

PMID 25262649 2014 Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.

PMID 26482070 2015 Prevalence of 35delG and Met34Thr GJB2 variants in Portuguese samples.

PMID 26117665 2015 The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.

PMID 23826813 2013 Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

PMID 26896187 2016 The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.

PMID 16300957 2006 Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.

PMID 23555729 2013 Etiology and audiological outcomes at 3 years for 364 children in Australia.

PMID 9716127 1998 Connexin mutations in deafness.

PMID 9139825 1997 Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.

PMID 22668073 2012 Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.

PMID 17041943 2006 DNA sequence analysis of GJB2, encoding connexin 26: observations from a population of hearing impaired cases and variable carrier rates, complex genotypes, and ethnic stratification of alleles among controls.

rs35887622 in GJB2 gene and hearing impairment PMID 16380907 2005 Several common mutations (M34T, V37I, and L90P) were associated with mild-to-moderate HI (median 25-40 dB).

PMID 22668073 2012 Homozygous M34T mutation of the GJB2 gene associates with an autosomal recessive nonsyndromic sensorineural hearing impairment in Finnish families.