Database of Pathogenic Variants
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Gene Detail
Gene Symbol
TMPRSS3
Gene:64699
HGNC:11877
Gene Name
transmembrane serine protease 3
Chromosome
21
Cytogenetic Band
q22.3
RefSeq Accession
NM_001256317
Associated Diseases
Deafness, autosomal recessive, 8
Associated Variants
NM_032404:c.778G>A
NM_024022:c.316C>T
NM_032404:c.647G>T
NM_032404:c.390C>G
NM_032404:c.226C>T
NM_024022:c.280G>A