Gene CDH23 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: CDH23
Disorder: Usher syndrome
Allele Frequency: 0.00460637
Carrier Rate: 0.00917029
Max At-Risk Couples rate: 0.0000841
The table below lists all clinically relevant variants identified in the CDH23 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 166 |
73500584 |
CDH23 |
NM_022124.6:c.4495delG |
NP_071407.4:p.Ala1499Leufs*17 |
2 |
0.000838% |
| 167 |
73500614 |
CDH23 |
NM_022124.6:c.4524delG |
NP_071407.4:p.Lys1509Argfs*7 |
2 |
0.000838% |
| 168 |
73500620 |
CDH23 |
NM_022124.6:c.4531delC |
NP_071407.4:p.His1511Thrfs*5 |
2 |
0.000838% |
| 169 |
73500671 |
CDH23 |
NM_022124.6:c.4581delC |
NP_071407.4:p.Ile1527Metfs*11 |
2 |
0.000838% |
| 170 |
73500677 |
CDH23 |
NM_022124.6:c.4590delC |
NP_071407.4:p.Phe1531Leufs*7 |
2 |
0.000838% |
| 364 |
73539073 |
CDH23 |
NM_022124.6:c.5237G>A |
p.Arg1746Gln |
1 |
0.000419% |
