rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
|
28964290 |
2017 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
[Identification of a novel SLC26A4 mutation in a child with enlarge vestibular aqueduct syndrome].
|
28604962 |
2017 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
An effective screening strategy for deafness in combination with a next-generation sequencing platform: a consecutive analysis.
|
26763877 |
2016 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
|
24007330 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutation analysis of common deafness genes among 1,201 patients with non-syndromic hearing loss in Shanxi Province.
|
30693673 |
2019 |
rs111033220
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations.
|
30622556 |
2018 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
|
24338212 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
SLC26A4 p.Thr410Met homozygous mutation in a patient with a cystic cochlea and an enlarged vestibular aqueduct showing characteristic features of incomplete partition type I and II.
|
25468468 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
[An investigation of SLC26A4 gene mutation in nonsydromic hearing impairment in Hunan province of China].
|
20842945 |
2010 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Analysis of the thyroid phenotype in 42 patients with Pendred syndrome and nonsyndromic enlargement of the vestibular aqueduct.
|
24224479 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Comparative study of mutation spectrums of MT-RNR1 m.1555A>G, GJB2, and SLC26A4 between familial and sporadic patients with nonsyndromic sensorineural hearing loss in Chinese Han.
|
25266519 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mutations of the PDS gene, encoding pendrin, are associated with protein mislocalization and loss of iodide efflux: implications for thyroid dysfunction in Pendred syndrome.
|
11932316 |
2002 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Pendred's syndrome and non-syndromic DFNB4 deafness associated with the homozygous T410M mutation in the SLC26A4 gene in siblings.
|
15811013 |
2005 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
[Genotypic analysis of familial dilated vestibular aqueduct syndrome].
|
16711435 |
2006 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
[Results of molecular genetic testing in Russian patients with Pendred syndrome and allelic disorders].
|
29372807 |
2017 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Extremely discrepant mutation spectrum of SLC26A4 between Chinese patients with isolated Mondini deformity and enlarged vestibular aqueduct.
|
21961810 |
2011 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Use of SLC26A4 mutation testing for unilateral enlargement of the vestibular aqueduct.
|
24051746 |
2013 |
rs111033220
|
|
|
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 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |