Gene CYP21A2 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: CYP21A2
Disorder: Hyperandrogenism
Allele Frequency: 0.0565327
Carrier Rate: 0.106673
Max At-Risk Couples rate: 0.0113792
The table below lists all clinically relevant variants identified in the CYP21A2 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 1 |
32008198 |
CYP21A2 |
NM_000500.7:c.955C>T |
p.Gln319* |
103 |
0.043132% |
| 9 |
32007887 |
CYP21A2 |
NM_000500.9:c.844G>T |
NP_000491.4:p.Val282Leu |
28 |
0.011725% |
| 284 |
32007893 |
CYP21A2 |
NM_000500.9:c.850A>G |
NP_000491.4:p.Met284Val |
2 |
0.000838% |
| 721 |
32006291 |
CYP21A2 |
NM_000500.9:c.92C>T |
NP_000491.4:p.Pro31Leu |
1 |
0.000419% |
| 722 |
32008783 |
CYP21A2 |
NM_000500.9:c.1360C>T |
NP_000491.4:p.Pro454Ser |
1 |
0.000419% |
