|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Bioinformatic Analysis of GJB2 Gene Missense Mutations.
|
25388846 |
2015 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Frequency of GJB2 and del(GJB6-D13S1830) mutations among an Ecuadorian mestizo population.
|
25085072 |
2014 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation detection in GJB2 gene among Malays with non-syndromic hearing loss.
|
22613756 |
2012 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Impaired membrane targeting and aberrant cellular localization of human Cx26 mutants associated with inherited recessive hearing loss.
|
20863150 |
2011 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Connexin-26-associated deafness: phenotypic variability and progression of hearing loss.
|
20154630 |
2010 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India.
|
19157576 |
2009 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
M34T and V37I mutations in GJB2 associated hearing impairment: evidence for pathogenicity and reduced penetrance.
|
17935238 |
2007 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Detection of mutations in genes associated with hearing loss using a microarray-based approach.
|
16931589 |
2006 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations: passage through Iran.
|
15666300 |
2005 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
15617550 |
2005 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of DFNB1 deafness in France.
|
15070423 |
2004 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
GeneticVariation
|
CLINVAR |
Effectiveness of sequencing connexin 26 (GJB2) in cases of familial or sporadic childhood deafness referred for molecular diagnostic testing.
|
12172394 |
2002 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Autosomal recessive non-syndromic hearing loss in the Lebanese population: prevalence of the 30delG mutation and report of two novel mutations in the connexin 26 (GJB2) gene.
|
11584050 |
2001 |
|
rs111033190
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Connexin 26 gene mutations in congenitally deaf children: pitfalls for genetic counseling.
|
11493200 |
2001 |