|
rs121908362
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
rs121908362
|
|
Pendred's syndrome
|
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
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Correlation between genotype and phenotype in patients with bi-allelic SLC26A4 mutations.
|
24007330 |
2014 |
|
rs121908362
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
A distinct spectrum of SLC26A4 mutations in patients with enlarged vestibular aqueduct in China.
|
17718863 |
2007 |
|
rs111033307
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Two missense mutations in SLC26A4 gene: a molecular and functional study.
|
20128824 |
2010 |
|
rs111033307
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations.
|
16570074 |
2006 |
|
rs111033307
|
|
Pendred's syndrome
|
G |
0.820 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs111033307
|
|
Pendred's syndrome
|
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 |
|
rs111033307
|
|
Pendred's syndrome
|
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 |
|
rs80338848
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
rs80338848
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs80338848
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
rs80338848
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
rs28939086
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome.
|
12354788 |
2002 |
|
rs28939086
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Heterogeneity in the processing defect of SLC26A4 mutants.
|
18310264 |
2008 |
|
rs28939086
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Molecular analysis of the PDS gene in Pendred syndrome.
|
9618167 |
1998 |
|
rs28939086
|
|
Pendred's syndrome
|
C |
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 |
|
rs28939086
|
|
Pendred's syndrome
|
C |
0.810 |
CausalMutation
|
CLINVAR |
Two frequent missense mutations in Pendred syndrome.
|
9618166 |
1998 |
|
rs121908363
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Clinical characteristics and genotype-phenotype correlation of hearing loss patients with SLC26A4 mutations.
|
17851929 |
2007 |
|
rs121908363
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Genetic basis of hearing loss associated with enlarged vestibular aqueducts in Koreans.
|
15679828 |
2005 |
|
rs121908363
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
|
rs121908363
|
|
Pendred's syndrome
|
T |
0.810 |
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 |
|
rs121908363
|
|
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 |
|
rs121908363
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
Identification of five new mutations of PDS/SLC26A4 in Mediterranean families with hearing impairment.
|
11748854 |
2001 |
|
rs111033348
|
|
Pendred's syndrome
|
T |
0.810 |
CausalMutation
|
CLINVAR |
|
|
|