|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.
|
27623246 |
2016 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The Relationship between the p.V37I Mutation in GJB2 and Hearing Phenotypes in Chinese Individuals.
|
26061099 |
2015 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Non-syndromic hearing loss caused by the dominant cis mutation R75Q with the recessive mutation V37I of the GJB2 (Connexin 26) gene.
|
26088551 |
2015 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
|
25262649 |
2014 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.
|
23873582 |
2013 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Newborn genetic screening for hearing impairment: a preliminary study at a tertiary center.
|
21811586 |
2011 |
|
rs72474224
|
|
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 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The fate of 12 recessive mutations in a single village.
|
17331080 |
2007 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.
|
17036313 |
2006 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss of function mutations of the GJB2 gene detected in patients with DFNB1-associated hearing impairment.
|
16300957 |
2006 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
The contribution of GJB2 mutations to slight or mild hearing loss in Australian elementary school children.
|
16840571 |
2006 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.
|
15967879 |
2005 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 mutations and degree of hearing loss: a multicenter study.
|
16380907 |
2005 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation analysis of the GJB2 (connexin 26) gene in Egypt.
|
15954104 |
2005 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.
|
15700112 |
2005 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
High prevalence of V37I genetic variant in the connexin-26 (GJB2) gene among non-syndromic hearing-impaired and control Thai individuals.
|
15479191 |
2004 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Molecular epidemiology of DFNB1 deafness in France.
|
15070423 |
2004 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prevalence of the GJB2 mutations and the del(GJB6-D13S1830) mutation in Brazilian patients with deafness.
|
15464305 |
2004 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
A genotype-phenotype correlation for GJB2 (connexin 26) deafness.
|
14985372 |
2004 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.
|
12792423 |
2003 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
GJB2 deafness gene shows a specific spectrum of mutations in Japan, including a frequent founder mutation.
|
12560944 |
2003 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.
|
12505163 |
2003 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).
|
15113126 |
2003 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
|
12121355 |
2002 |
|
rs72474224
|
|
DEAFNESS, AUTOSOMAL RECESSIVE 1A (disorder)
|
T |
0.800 |
CausalMutation
|
CLINVAR |
Prevalent connexin 26 gene (GJB2) mutations in Japanese.
|
10633133 |
2000 |