rs137852999
×
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
rs137853000
×
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
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
A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.
16021470
2005
rs137852999
×
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
rs137853000
×
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
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
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
rs137852999
×
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
rs137852999
×
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
rs137853000
×
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
rs137853000
×
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
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
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
×
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
rs387906915
×
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
rs137852999
×
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
rs137852999
×
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
rs137853000
×
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
rs137853000
×
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 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
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
Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.
11424922
2001
rs137852999
×
Entrez Id:
64699
Gene Symbol:
TMPRSS3
TMPRSS3
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8
G
0.800
CausalMutation
CLINVAR