|
rs104894403
|
|
|
0.710 |
GeneticVariation |
BEFREE |
A missense mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families.
|
10369869 |
1999 |
|
rs104894403
|
|
A |
0.710 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1302739538
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs28931593
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs397516875
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Homozygosity for the V37I GJB2 mutation may be a more common pathogenic missense mutation in Asian populations, resulting in mild to moderate sensorineural hearing impairment.
|
23873582 |
2013 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
We present two East Asian patients with sensorineural hearing loss (SNHL) and compound heterozygosity for the 235delC and V37I mutations in the GJB2 gene.
|
16952406 |
2006 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Our data indicate that slight/mild sensorineural hearing loss due to the GJB2 V37I mutation is common in people of Asian background.
|
16840571 |
2006 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
This study examines the pathogenicity of V37I by comparing the frequency of this allele in 40 patients with SNHL of Chinese and Caucasian descent with the frequency of the allele in 100 anonymized, ethnically matched controls.
|
17036313 |
2006 |
|
rs72474224
|
|
|
0.050 |
GeneticVariation |
BEFREE |
Homozygosity for the V37I Connexin 26 mutation in three unrelated children with sensorineural hearing loss.
|
12121355 |
2002 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
In addition, we found three patients with compound p.M34T mutation also exhibiting mild to moderate SNHI.
|
22668073 |
2012 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Patients with M34T mutations and/or mild SNHL had a low risk of progression.
|
19235794 |
2009 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss.
|
11134236 |
2001 |
|
rs35887622
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Autosomal recessive nonsyndromic neurosensory deafness at DFNB1 not associated with the compound-heterozygous GJB2 (connexin 26) genotype M34T/167delT.
|
10903123 |
2000 |
|
rs104894404
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.
|
29665173 |
2018 |
|
rs1291519904
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.
|
29665173 |
2018 |
|
rs750188782
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.
|
29665173 |
2018 |
|
rs104894396
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The sibling with hearing loss also harbored a homozygous mutation in GJB2, c.71G>A (p.Trp24*), which is an established cause of sensorineural hearing loss.
|
27389523 |
2016 |
|
rs1057517491
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL.
|
15633193 |
2005 |
|
rs72561723
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G45E mutation was not reported previously in Caucasian patients but was the third most common GJB2 mutation (16% of disease alleles) in Japanese patients with autosomal recessive non-syndromic HL.
|
15633193 |
2005 |
|
rs104894409
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness.
|
12562518 |
2003 |
|
rs111033196
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study suggests that (R127H) mutation associated with hereditary sensorineural deafness results in the formation of defective Cx26 gap junctions, which may lead to the malfunction of cochlear gap junctions and hearing loss.
|
12562518 |
2003 |
|
rs111033299
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness.
|
12562518 |
2003 |
|
rs80338948
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Further studies are required to determine the exact mechanism by which mutant (V84L), (V95M), and (R143W) Cx26 proteins, which are capable of forming functional homotypic junctional channels in N2A cells, cause the cochlear dysfunction and sensorineural deafness.
|
12562518 |
2003 |