Gene CA5A 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: CA5A
Disorder: Carbonic anhydrase VA deficiency
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 CA5A gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 119 |
87925458 |
CA5A |
NM_001739.2:c.721G>A |
NP_001730.1:p.Glu241Lys |
3 |
0.001256% |
| 508 |
87925434 |
CA5A |
NM_001739.2:c.745A>T |
NP_001730.1:p.Lys249Ter |
1 |
0.000419% |
| 509 |
87925458 |
CA5A |
NM_001739.2:c.721G>T |
NP_001730.1:p.Glu241Ter |
1 |
0.000419% |
