rs111033243
|
|
Pendred's syndrome
|
|
0.010 |
GeneticVariation
|
BEFREE |
The p.F354S variant is already described to be involved in PS or NSHL inheritances.
|
21045265 |
2010 |
rs121908364
|
|
Pendred's syndrome
|
|
0.010 |
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 |
rs201562855
|
|
Pendred's syndrome
|
|
0.010 |
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 |
rs760413427
|
|
Pendred's syndrome
|
|
0.010 |
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 |
rs984967571
|
|
Pendred's syndrome
|
|
0.010 |
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 |
rs1045933779
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.
|
25394566 |
2015 |
rs1045933779
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
SLC26A4 mutation frequency and spectrum in 109 Danish Pendred syndrome/DFNB4 probands and a report of nine novel mutations.
|
23336812 |
2013 |
rs1045933779
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
Significance of unilateral enlarged vestibular aqueduct.
|
23401162 |
2013 |
rs1045933779
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
High-throughput detection of mutations responsible for childhood hearing loss using resequencing microarrays.
|
20146813 |
2010 |
rs1057516243
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs1057516243
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Mutation spectrum and genotype-phenotype correlation of hearing loss patients caused by SLC26A4 mutations in the Japanese: a large cohort study.
|
24599119 |
2014 |
rs1057516243
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
rs1057516354
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
A mutational analysis of the SLC26A4 gene in Spanish hearing-impaired families provides new insights into the genetic causes of Pendred syndrome and DFNB4 hearing loss.
|
18285825 |
2008 |
rs1057516535
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516634
|
|
Pendred's syndrome
|
C |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516636
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516658
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs1057516678
|
|
Pendred's syndrome
|
T |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516717
|
|
Pendred's syndrome
|
G |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516796
|
|
Pendred's syndrome
|
A |
0.700 |
GeneticVariation
|
CLINVAR |
|
|
|
rs1057516881
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs1057516881
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Molecular etiology of hearing impairment associated with nonsyndromic enlarged vestibular aqueduct in East China.
|
23918157 |
2013 |
rs1057516881
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Identification of SLC26A4 c.919-2A>G compound heterozygosity in hearing-impaired patients to improve genetic counseling.
|
23151025 |
2012 |
rs1057516953
|
|
Pendred's syndrome
|
T |
0.700 |
CausalMutation
|
CLINVAR |
KCNJ10 may not be a contributor to nonsyndromic enlargement of vestibular aqueduct (NSEVA) in Chinese subjects.
|
25372295 |
2014 |
rs1057516988
|
|
Pendred's syndrome
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Mono-allelic mutations of SLC26A4 is over-presented in deaf patients with non-syndromic enlarged vestibular aqueduct.
|
26100058 |
2015 |