Gene OTOG 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: OTOG
Disorder: Hearing loss, sensorineural
Allele Frequency: 0.00125628
Carrier Rate: 0.00250941
Max At-Risk Couples rate: 0.0000063
The table below lists all clinically relevant variants identified in the OTOG gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 177 |
17655766 |
OTOG |
NM_001277269.2:c.7454delG |
NP_001264198.1:p.Arg2485Hisfs*77 |
2 |
0.000838% |
| 382 |
17618555 |
OTOG |
NM_001277269.2:c.3718+1G>A |
|
1 |
0.000419% |
