|
rs111033199
|
|
Pendred's syndrome
|
C |
0.810 |
GeneticVariation
|
CLINVAR |
Resistance to hypertension and high Cl- excretion in humans with SLC26A4 mutations.
|
27090054 |
2017 |
|
rs111033199
|
|
Pendred's syndrome
|
C |
0.810 |
GeneticVariation
|
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Ethnic-specific spectrum of GJB2 and SLC26A4 mutations: their origin and a literature review.
|
25999548 |
2015 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Diagnostic Value of SLC26A4 Mutation Status in Hereditary Hearing Loss With EVA: A PRISMA-Compliant Meta-Analysis.
|
26683941 |
2015 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of SLC26A4 gene in patients with nonsyndromic hearing loss and EVA: identification of two novel mutations in Brazilian patients.
|
23273637 |
2013 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.
|
23965030 |
2013 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Life-threatening metabolic alkalosis in Pendred syndrome.
|
21551164 |
2011 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
|
20597900 |
2010 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Hypo-functional SLC26A4 variants associated with nonsyndromic hearing loss and enlargement of the vestibular aqueduct: genotype-phenotype correlation or coincidental polymorphisms?
|
19204907 |
2009 |
|
rs111033199
|
|
Pendred's syndrome
|
C |
0.810 |
GeneticVariation
|
CLINVAR |
Efficient molecular genetic diagnosis of enlarged vestibular aqueducts in East Asians.
|
19645628 |
2009 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
|
18285825 |
2008 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Functional assessment of allelic variants in the SLC26A4 gene involved in Pendred syndrome and nonsyndromic EVA.
|
19017801 |
2008 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Transcriptional control of SLC26A4 is involved in Pendred syndrome and nonsyndromic enlargement of vestibular aqueduct (DFNB4).
|
17503324 |
2007 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
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 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
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 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
|
14679580 |
2004 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
|
rs111033199
|
|
Pendred's syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome.
|
12788906 |
2003 |
|
rs111033199
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
We therefore concluded that V138F is a founder mutation in our cohort of German families with Pendred's syndrome.
|
12788906 |
2003 |