AVDB

Gene TMPRSS3 Details

It offers a comprehensive overview of all clinically relevant variants linked to a specified gene. It provides detailed metrics for each variant, including chromosomal position, HGVS c. and p. notation, allele frequencies, carrier rates, and estimated metrics for at-risk couples. By combining gene-level statistics with specific variant-level data, this page enables an in-depth analysis of how particular genes contribute to disease, thus supporting both clinical interpretation and research efforts.

Gene: TMPRSS3

Disorder: Hearing loss

Allele Frequency: 0.00167504

Carrier Rate: 0.00334447

Max At-Risk Couples rate: 0.0000112

The table below lists all clinically relevant variants identified in the TMPRSS3 gene based on the Emirati cohort dataset.

id Chromosome Position Gene Name HGVS c. (Clinically Relevant) HGVS p. (Clinically Relevant) Allele Count Allele Frequency
131 43795961 TMPRSS3 NM_024022.4:c.1211C>T NP_076927.1:p.Pro404Leu 3 0.001256%
625 43809044 TMPRSS3 NM_024022.4:c.316C>T NP_076927.1:p.Arg106Cys 1 0.000419%