Gene CNGA3 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: CNGA3
Disorder: Achromatopsia 2
Allele Frequency: 0.00251256
Carrier Rate: 0.0050125
Max At-Risk Couples rate: 0.0000251
The table below lists all clinically relevant variants identified in the CNGA3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 251 |
99013128 |
CNGA3 |
NM_001298.3:c.1495C>T |
p.Arg499Ter |
2 |
0.000838% |
| 617 |
99012462 |
CNGA3 |
NM_001298.3:c.829C>T |
NP_001289.1:p.Arg277Cys |
1 |
0.000419% |
| 618 |
99012600 |
CNGA3 |
NM_001298.3:c.967G>C |
p.Ala323Pro |
1 |
0.000419% |
| 619 |
99013218 |
CNGA3 |
NM_001298.3:c.1585G>A |
NP_001289.1:p.Val529Met |
1 |
0.000419% |
| 620 |
99013338 |
CNGA3 |
NM_001298.3:c.1705C>T |
NP_001289.1:p.Arg569Cys |
1 |
0.000419% |
