Gene OTOGL 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: OTOGL
Disorder: Hearing impairment
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 OTOGL gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 192 |
80672808 |
OTOGL |
NM_173591.7:c.2790C>A |
NP_775862.4:p.Cys930Ter |
2 |
0.000838% |
| 424 |
80605728 |
OTOGL |
NM_173591.7:c.120-1G>T |
|
1 |
0.000419% |
| 425 |
80707323 |
OTOGL |
NM_173591.7:c.3521_3524delAGTG |
NP_775862.4:p.Glu1174Valfs*6 |
1 |
0.000419% |
