Gene TPRN 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: TPRN
Disorder: Hearing loss
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the TPRN gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 97 |
140095139 |
TPRN |
NM_001128228.3:c.25delT |
NP_001121700.2:p.Ser9Argfs*22 |
4 |
0.001675% |
| 789 |
140086727 |
TPRN |
NM_001128228.3:c.2057delC |
NP_001121700.2:p.Pro686Argfs |
1 |
0.000419% |
| 790 |
140094929 |
TPRN |
NM_001128228.3:c.214_235del |
NP_001121700.2:p.Gly72Cysfs*371 |
1 |
0.000419% |
