rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Cochlear implantation in a 10-year old boy with Pendred syndrome and extremely enlarged endolymphatic sacs.
30484383
2019
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.
29739340
2018
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
High frequency of mutations in 'dyshormonogenesis genes' in severe congenital hypothyroidism.
30240412
2018
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
27771369
2017
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands.
28000701
2017
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
28281779
2017
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Comprehensive genetic testing in the clinical evaluation of 1119 patients with hearing loss.
26969326
2016
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
24224479
2014
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
22975760
2013
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
24051746
2013
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Spectrum and frequency of SLC26A4 mutations among Czech patients with early hearing loss with and without Enlarged Vestibular Aqueduct (EVA).
20597900
2010
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
20108392
2010
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
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
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Heterogeneity in the processing defect of SLC26A4 mutants.
18310264
2008
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
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
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness.
12676893
2003
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
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
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
12354788
2002
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
11748854
2001
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
10861298
2000
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
10700480
2000
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
10190331
1999
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
GeneticVariation
CLINVAR
Two frequent missense mutations in Pendred syndrome.
9618166
1998
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
0.800
GeneticVariation
UNIPROT
A mutation in PDS causes non-syndromic recessive deafness.
9500541
1998
rs28939086
×
Entrez Id:
5172
Gene Symbol:
SLC26A4
SLC26A4
DEAFNESS, AUTOSOMAL RECESSIVE 4, WITH ENLARGED VESTIBULAR AQUEDUCT
C
0.800
CausalMutation
CLINVAR