rs121908362
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
|
24007330 |
2014 |
rs111033307
|
|
G |
0.820 |
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 |
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Two missense mutations in SLC26A4 gene: a molecular and functional study.
|
20128824 |
2010 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
BEFREE |
A single Pendred syndrome (PDS) gene mutation, L445W, was found.
|
20822748 |
2010 |
rs121908362
|
|
G |
0.820 |
CausalMutation |
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 |
rs121908362
|
|
|
0.820 |
GeneticVariation |
BEFREE |
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 |
rs111033307
|
|
|
0.820 |
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 |
rs111033307
|
|
G |
0.820 |
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 |
rs121908362
|
|
|
0.820 |
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 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
BEFREE |
This study also revealed the first case of a de novo recessive mutation p.Q413P causing PS that arose in the proband's paternal allele, the maternal one carrying the p.L445W.
|
18285825 |
2008 |
rs121908362
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
rs121908362
|
|
G |
0.820 |
GeneticVariation |
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
rs121908362
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
|
17718863 |
2007 |
rs111033307
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
rs121908362
|
|
|
0.820 |
GeneticVariation |
BEFREE |
The H723R mutation in the PDS/SLC26A4 gene is associated with typical Pendred syndrome in Korean patients.
|
17322586 |
2006 |
rs111033307
|
|
|
0.820 |
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 |
rs121908362
|
|
|
0.820 |
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 |
rs111033307
|
|
|
0.820 |
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 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
rs121908362
|
|
|
0.820 |
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 |
rs121908362
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Screening of SLC26A4 (PDS) gene in Pendred's syndrome: a large spectrum of mutations in France and phenotypic heterogeneity.
|
15355436 |
2004 |
rs121908362
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.
|
15531480 |
2004 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
|
12974744 |
2003 |
rs111033307
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Mutations in the PDS gene in German families with Pendred's syndrome: V138F is a founder mutation.
|
12788906 |
2003 |