Variant: rs727503493 

    present in Gene: TMPRSS3
    present in Chromosome: 21
    Position on Chromosome: 42389043
    Alleles of this Variant: G/-

rs727503493 in TMPRSS3 gene and DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 PMID 21534946 2012 Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

PMID 26036852 2016 TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

PMID 19170735 2009 Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.

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

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 21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

rs727503493 in TMPRSS3 gene and Movement Disorders PMID 12920079 2003 Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

PMID 26036852 2016 TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

PMID 28263784 2017 Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

PMID 17981648 2008 TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

PMID 26408194 2016 Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

PMID 21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.