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% |