rs147231991
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
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
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
CausalMutation
CLINVAR
Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.
22975204
2012
rs147231991
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
CausalMutation
CLINVAR
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
21786053
2011
rs147231991
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
GeneticVariation
CLINVAR
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
CausalMutation
CLINVAR
Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.
21786053
2011
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
CausalMutation
CLINVAR
Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.
23958653
2013
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
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
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
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
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
T
0.700
CausalMutation
CLINVAR
Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.
17551081
2007
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
hearing impairment
0.020
GeneticVariation
BEFREE
Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12).
28246597
2017
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
hearing impairment
0.020
GeneticVariation
BEFREE
The identification of two novel pathogenic TMPRSS3 mutations (c.646C-->T - R216C; c.916G-->A - A306T ) is described in four affected siblings of German origin with postlingual hearing loss , treated by bilateral cochlear implantation with good results.
17551081
2007
rs181949335
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
Profound hearing impairment
0.010
GeneticVariation
BEFREE
Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12).
28246597
2017
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
15447792
2004
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.
11907649
2002
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
A
0.800
CausalMutation
CLINVAR
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
11462234
2001
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
11424922
2001
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
16021470
2005
rs28939084
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.
12393794
2002
rs3814903
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
Malignant neoplasm of breast
0.010
GeneticVariation
BEFREE
SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042).
25029565
2014
rs3814903
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
Breast Carcinoma
0.010
GeneticVariation
BEFREE
SNPs in TMPRSS3 (rs3814903 and rs11203200), TMPRSS7 (rs1844925), and HGF (rs5745752) associated significantly with breast cancer risk (Ptrend = 0.008-0.042).
25029565
2014
rs387906915
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
16021470
2005
rs387906915
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.
11462234
2001
rs387906915
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
0.800
GeneticVariation
UNIPROT
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.
15447792
2004
rs387906915
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
C
0.800
CausalMutation
CLINVAR