|
rs10258719
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Val2Ala mutation in the Atp6v0a4 gene causes early-onset sensorineural hearing loss in children with recessive distal renal tubular acidosis: a case report.
|
24564331 |
2014 |
|
rs104894334
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, a recurrent missense mutation (A147T) within the aquaporin-2 gene was identified in a female patient with autosomal recessive NDI associated with sensorineural deafness.
|
10770218 |
2000 |
|
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 |
|
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 |
|
|
|
|
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 |
|
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 |
|
rs104895564
|
|
|
0.010 |
GeneticVariation |
BEFREE |
On the other hand, some genetic mutations may lead to specific phenotype, as we have found a high prevalence of sensorineural hearing loss among p.R284X patients.
|
31820221 |
2019 |
|
rs1057516039
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.
|
26938784 |
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 |
|
rs1057517694
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057517695
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
|
rs1057518895
|
|
G |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs11096955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Logistic regression demonstrated that the time since the onset of MD, Tumarkin crises, hearing stage and rs11096955 were independent factors influencing the risk of bilateral SNHL.
|
23370977 |
2013 |
|
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 |
|
rs111033256
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel variant of SLC26A4 and first report of the c.716T>A variant in Iranian pedigrees with non-syndromic sensorineural hearing loss.
|
30077349 |
2019 |
|
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 |
|
rs111033437
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs1131692056
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel missense variant in PRKCB segregates low-frequency hearing loss in an autosomal dominant family with Meniere's disease.
|
27329761 |
2016 |
|
rs1135401743
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
NAD Deficiency, Congenital Malformations, and Niacin Supplementation.
|
28792876 |
2017 |
|
rs113994097
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss.
|
18321754 |
2008 |
|
rs1176235580
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Lack of a modulative factor in locus 8p23 in a Finnish family with nonsyndromic sensorineural hearing loss associated with the 1555A>G mitochondrial DNA mutation.
|
12939650 |
2003 |
|
rs11920109
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The difference in genotypes for the rs11920109 single nucleotide polymorphism between the sensorineural hearing loss groups and control groups showed no statistical significance.
|
30528655 |
2020 |
|
rs11928865
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To test the association between the single nucleotide polymorphisms rs11928865 and rs11920109 of the glutamate metabotropic receptor 7 with sensorineural hearing loss in adults of different age groups.
|
30528655 |
2020 |
|
rs121908361
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This is the first reported case of a patient with the SLC26A4 gene mutation c.1105A > G (p.K369E) who had low-frequency sensorineural hearing loss.
|
25572613 |
2015 |