Variant: rs137852999 

    present in Gene: TMPRSS3
    present in Chromosome: 21
    Position on Chromosome: 42383062
    Alleles of this Variant: C/G

rs137852999 in TMPRSS3 gene and DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 PMID 12393794 2002 The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

PMID 11462234 2001 Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

PMID 15447792 2004 Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 11424922 2001 Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

PMID 16021470 2005 A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

PMID 11907649 2002 Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.