|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.
|
25708704 |
2015 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.
|
26117665 |
2015 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
The Prevalence of Gap Junction Protein Beta 2 (GJB2) Mutations in Non Syndromic Sensorineural Hearing Loss in Çukurova Region.
|
26381000 |
2015 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.
|
24529908 |
2014 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
|
22975760 |
2013 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Vestibular dysfunction in DFNB1 deafness.
|
21465647 |
2011 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum of CFTR gene mutations in Iranian Azeri Turkish patients with cystic fibrosis.
|
21198395 |
2011 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Functional consequences of novel connexin 26 mutations associated with hereditary hearing loss.
|
18941476 |
2009 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Different functional consequences of two missense mutations in the GJB2 gene associated with non-syndromic hearing loss.
|
19384972 |
2009 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and mitochondrial A1555G gene mutations in nonsyndromic profound hearing loss and carrier frequencies in healthy individuals.
|
18560174 |
2008 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
|
17666888 |
2007 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
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.
|
17041943 |
2006 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
|
12505163 |
2003 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.
|
12668604 |
2003 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel dominant missense mutation--D179N--in the GJB2 gene (Connexin 26) associated with non-syndromic hearing loss.
|
12786758 |
2003 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Human connexin26 (GJB2) deafness mutations affect the function of gap junction channels at different levels of protein expression.
|
12189493 |
2002 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of GJB2 mutations in prelingual deafness in the Greek population.
|
12176179 |
2002 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.
|
10807696 |
2000 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Molecular basis of childhood deafness resulting from mutations in the GJB2 (connexin 26) gene.
|
10982180 |
2000 |
|
rs80338950
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Cx26 deafness: mutation analysis and clinical variability.
|
10544226 |
1999 |