|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Etiologic diagnosis of nonsyndromic genetic hearing loss in adult vs pediatric populations.
|
22785241 |
2012 |
|
rs104894397
|
|
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 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.
|
16088916 |
2005 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
rs104894397
|
|
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 |
|
rs104894397
|
|
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 |
|
rs104894397
|
|
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 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Pattern of connexin 26 (GJB2) mutations causing sensorineural hearing impairment in Ghana.
|
11439000 |
2001 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
|
rs104894397
|
|
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 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness.
|
10556284 |
1999 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Connexin 26 gene linked to a dominant deafness.
|
9620796 |
1998 |
|
rs104894397
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Two different connexin 26 mutations in an inbred kindred segregating non-syndromic recessive deafness: implications for genetic studies in isolated populations.
|
9328482 |
1997 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence and audiological profiles of GJB2 mutations in a large collective of hearing impaired patients.
|
26778469 |
2016 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
A Mayan founder mutation is a common cause of deafness in Guatemala.
|
26346709 |
2016 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum and frequency of GJB2, GJB6 and SLC26A4 gene mutations among nonsyndromic hearing loss patients in eastern part of India.
|
26188157 |
2015 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Particular distribution of the GJB2/GJB6 gene mutations in Mexican population with hearing impairment.
|
24774219 |
2014 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Spectrum and frequency of GJB2 mutations in a cohort of 264 Portuguese nonsyndromic sensorineural hearing loss patients.
|
23668481 |
2013 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
GJB2-associated hearing loss undetected by hearing screening of newborns.
|
24013081 |
2013 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Etiology and audiological outcomes at 3 years for 364 children in Australia.
|
23555729 |
2013 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Etiology and audiological outcomes at 3 years for 364 children in Australia.
|
23555729 |
2013 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Identification of four novel connexin 26 mutations in non-syndromic deaf patients: genotype-phenotype analysis in moderate cases.
|
24158611 |
2013 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Analysis of four connexin26 mutant gap junctions and hemichannels reveals variations in hexamer stability.
|
20441744 |
2010 |