TMPRSS3, transmembrane serine protease 3, 64699

N. diseases: 45; N. variants: 17
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1060499811
rs1060499811
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs11203200
rs11203200
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0006142
Disease:
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
dbSNP: rs11203200
rs11203200
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C0678222
Disease:
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
dbSNP: rs1237955948
rs1237955948
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1384666
Disease:
hearing impairment 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1237955948
rs1237955948
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1333651774
rs1333651774
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		0.700 GeneticVariation UNIPROT
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		G 0.800 CausalMutation CLINVAR
dbSNP: rs137852999
rs137852999
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		A 0.800 CausalMutation CLINVAR
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs137853000
rs137853000
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
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
dbSNP: rs139805921
rs139805921
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C4022756
Disease:
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
dbSNP: rs139805921
rs139805921
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1384666
Disease:
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
dbSNP: rs1429442821
rs1429442821
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1832827
Disease:
DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1429442821
rs1429442821
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1384666
Disease:
hearing impairment 		T 0.700 CausalMutation CLINVAR
dbSNP: rs145913750
rs145913750
Entrez Id: 64699
Gene Symbol: TMPRSS3
TMPRSS3
CUI: C1384666
Disease:
hearing impairment 		0.010 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