Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
Hearing Impairment 8/10 (DFNB8/10, TMPRSS3) | Prelingual hearing impairment | Autosomal Recessive | 21q22.3 | Missense | TMPRSS3 | 726C>G | Cys242Trp | Amino Acid Substitution | 0/Shafique et al., 2014 |