|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
|
12562518 |
2003 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
|
12505163 |
2003 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations in children with congenital cytomegalovirus infection.
|
17426645 |
2007 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)
|
10049954 |
1999 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Gap junction-mediated intercellular biochemical coupling in cochlear supporting cells is required for normal cochlear functions.
|
16217030 |
2005 |
|
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)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A novel hearing-loss-related mutation occurring in the GJB2 basal promoter.
|
17660464 |
2007 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2: the spectrum of deafness-causing allele variants and their phenotype.
|
15365987 |
2004 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Functional analysis of connexin-26 mutants associated with hereditary recessive deafness.
|
12562518 |
2003 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Novel mutations in the connexin 26 gene (GJB2) that cause autosomal recessive (DFNB1) hearing loss.
|
9529365 |
1998 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Progressive hearing loss, and recurrent sudden sensorineural hearing loss associated with GJB2 mutations--phenotypic spectrum and frequencies of GJB2 mutations in Austria.
|
12189487 |
2002 |
|
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)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Sensorineural hearing loss and the incidence of Cx26 mutations in Austria.
|
11313763 |
2001 |
|
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)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Pathogenetic role of the deafness-related M34T mutation of Cx26.
|
16849369 |
2006 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Evaluation of Cx26/GJB2 in German hearing impaired persons: mutation spectrum and detection of disequilibrium between M34T (c.101T>C) and -493del10.
|
12497637 |
2003 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
A |
0.800 |
CausalMutation
|
CLINVAR |
Connexin 26 studies in patients with sensorineural hearing loss.
|
11556849 |
2001 |
|
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 |
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)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Unique spectrum of GJB2 mutations in Mexico.
|
22925408 |
2012 |
|
rs104894409
|
|
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 |
|
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 |
|
rs104894409
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
G |
0.800 |
CausalMutation
|
CLINVAR |
Impaired permeability to Ins(1,4,5)P3 in a mutant connexin underlies recessive hereditary deafness.
|
15592461 |
2005 |
|
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 |