Gene CCNO 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: CCNO
Disorder: Ciliary dyskinesia
Allele Frequency: 0.00293132
Carrier Rate: 0.00584546
Max At-Risk Couples rate: 0.0000342
The table below lists all clinically relevant variants identified in the CCNO gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 56 |
54529084 |
CCNO |
NM_021147.5:c.259_268dupGCCCAGCCCG |
NP_066970.3:p.Val90Glyfs*49 |
6 |
0.002513% |
| 710 |
54529090 |
CCNO |
NM_021147.5:c.258_262dupGGCCC |
NP_066970.3:p.Gln88Argfs*8 |
1 |
0.000419% |
