rs387906915
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
rs387906915
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
|
12393794 |
2002 |
rs387906915
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
|
11424922 |
2001 |
rs1060499811
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1237955948
|
|
A |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs1333651774
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|
rs1429442821
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
|
|
|
rs147231991
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.
|
16283880 |
2005 |
rs147231991
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
|
22975204 |
2012 |
rs147231991
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
|
21786053 |
2011 |
rs147231991
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs181949335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
|
21786053 |
2011 |
rs181949335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
|
23958653 |
2013 |
rs181949335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.
|
24526180 |
2014 |
rs181949335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.
|
28246597 |
2017 |
rs181949335
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
|
17551081 |
2007 |
rs56264519
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
|
11907649 |
2002 |
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
|
21786053 |
2011 |
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
|
15447792 |
2004 |
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.
|
21534946 |
2012 |
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.
|
26036852 |
2016 |
rs727503493
|
|
T |
0.700 |
CausalMutation |
CLINVAR |
Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.
|
19170735 |
2009 |
rs773780151
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
|
|
|