rs111033220
|
|
T |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
A frequent oligogenic involvement in congenital hypothyroidism.
|
28444304 |
2017 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
A mutation in PDS causes non-syndromic recessive deafness.
|
9500541 |
1998 |
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 |
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 |
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
|
24007330 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Differential diagnosis between Pendred and pseudo-Pendred syndromes: clinical, radiologic, and molecular studies.
|
11919333 |
2002 |
rs111033220
|
|
|
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 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Enlarged vestibular aqueduct: a radiological marker of pendred syndrome, and mutation of the PDS gene.
|
10700480 |
2000 |
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
|
|
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
|
|
|
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 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Intrafamilial phenotypic variability in families with biallelic SLC26A4 mutations.
|
24338212 |
2014 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Mapping pathogenic mutations suggests an innovative structural model for the pendrin (SLC26A4) transmembrane domain.
|
27771369 |
2017 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular Analysis of Twelve Pakistani Families with Nonsyndromic or Syndromic Hearing Loss.
|
28281779 |
2017 |
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 |
GeneticVariation |
CLINVAR |
Mutation analysis of SLC26A4 in mainland Chinese patients with enlarged vestibular aqueduct.
|
19786220 |
2009 |
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
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Non-syndromic hearing loss associated with enlarged vestibular aqueduct is caused by PDS mutations.
|
10190331 |
1999 |
rs111033220
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel human pathological mutations. Gene symbol: SLC26A4. Disease: Deafness, non-syndromic, autosomal recessive.
|
20108392 |
2010 |
rs111033220
|
|
T |
0.800 |
GeneticVariation |
CLINVAR |
Novel pathogenic variants underlie SLC26A4-related hearing loss in a multiethnic cohort.
|
28964290 |
2017 |
rs111033220
|
|
|
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 |
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 |