Gene OTOF 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: OTOF
Disorder: Deafness, non-syndromic
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 OTOF gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 600 |
26683865 |
OTOF |
NM_194248.3:c.5567G>A |
NP_919224.1:p.Arg1856Gln |
1 |
0.000419% |
| 601 |
26700376 |
OTOF |
NM_194248.3:c.2316-2A>T |
|
1 |
0.000419% |
| 602 |
26706480 |
OTOF |
NM_194248.3:c.1241_1242delGC |
NP_919224.1:p.Arg414Profs*33 |
1 |
0.000419% |
