Gene CEP290 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: CEP290
Disorder: Leber congenital amaurosis 10
Allele Frequency: 0.0020938
Carrier Rate: 0.00417884
Max At-Risk Couples rate: 0.0000175
The table below lists all clinically relevant variants identified in the CEP290 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 193 |
88473993 |
CEP290 |
NM_025114.4:c.5192delA |
NP_079390.3:p.Lys1731Argfs*4 |
2 |
0.000838% |
| 426 |
88481594 |
CEP290 |
NM_025114.4:c.4157delT |
NP_079390.3:p.Ile1386Thrfs*33 |
1 |
0.000419% |
| 427 |
88487681 |
CEP290 |
NM_025114.4:c.3175delA |
NP_079390.3:p.Ile1059Ter |
1 |
0.000419% |
| 428 |
88524986 |
CEP290 |
NM_025114.4:c.451C>T |
NP_079390.3:p.Arg151Ter |
1 |
0.000419% |
