|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Hearing impairment was caused in one family by a novel mutation in the recently identified OTOF (the DFNB9 gene), by a novel Pendred syndrome mutation (Thr193Ile) in another family, and by a GJB2 mutation (35delG also known as 30delG) in the third family.
|
10878664 |
2000 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
|
20597900 |
2010 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Reduction of Cellular Expression Levels Is a Common Feature of Functionally Affected Pendrin (SLC26A4) Protein Variants.
|
26752218 |
2016 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
DNA sequence analysis and genotype-phenotype assessment in 71 patients with syndromic hearing loss or auditory neuropathy.
|
25991456 |
2015 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
GeneticVariation
|
CLINVAR |
Pendred syndrome in two Galician families: insights into clinical phenotypes through cellular, genetic, and molecular studies.
|
17940114 |
2008 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Molecular and functional characterization of human pendrin and its allelic variants.
|
22116358 |
2011 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and nonsyndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
|
14508505 |
2003 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Simultaneous multigene mutation detection in patients with sensorineural hearing loss through a novel diagnostic microarray: a new approach for newborn screening follow-up.
|
16950989 |
2006 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Pathogenetics of the human SLC26 transporters.
|
15720248 |
2005 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
|
24599119 |
2014 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Molecular etiology of hearing impairment in Inner Mongolia: mutations in SLC26A4 gene and relevant phenotype analysis.
|
19040761 |
2008 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Therefore, in this study, we focused on the function of ten missense pendrin mutations (p.P123S (Pendred syndrome), p.M147V (NSEVA), p.K369E (NSEVA), p.A372V (Pendred syndrome/NSEVA), p.N392Y (Pendred syndrome), p.C565Y (NSEVA), p.S657N (NSEVA), p.S666F (NSEVA), p.T721M (NSEVA) and p.H723R (Pendred syndrome/NSEVA)) reported in Japanese patients, and analyzed their cellular localization and anion exchanger activity using HEK293 cells transfected with each mutant gene.
|
20826203 |
2010 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
|
11317356 |
2001 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
SLC26A4/PDS genotype-phenotype correlation in hearing loss with enlargement of the vestibular aqueduct (EVA): evidence that Pendred syndrome and non-syndromic EVA are distinct clinical and genetic entities.
|
15689455 |
2005 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Simultaneous screening of multiple mutations by invader assay improves molecular diagnosis of hereditary hearing loss: a multicenter study.
|
22384008 |
2012 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Evaluation of the thyroid in patients with hearing loss and enlarged vestibular aqueducts.
|
19620588 |
2009 |
|
rs111033257
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
Segregation of enlarged vestibular aqueducts in families with non-diagnostic SLC26A4 genotypes.
|
19578036 |
2009 |
|
rs111033256
|
|
Pendred's syndrome
|
A |
0.810 |
GeneticVariation
|
CLINVAR |
As p.V239D (30%), p.S90L (18%) and p.Q446R (18%) account for approximately two-third of the mutant alleles of SLC26A4, hierarchical strategies for mutation detection would be feasible and cost-efficient genetic tests for DFNB4 deafness and PDS in Pakistanis.
|
19287372 |
2009 |