Gene CAPN3 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: CAPN3
Disorder: Muscular dystrophy, limb girdle 2A
Allele Frequency: 0.00167504
Carrier Rate: 0.00334447
Max At-Risk Couples rate: 0.0000112
The table below lists all clinically relevant variants identified in the CAPN3 gene based on the Emirati cohort dataset.
| id |
Chromosome Position |
Gene Name |
HGVS c. (Clinically Relevant) |
HGVS p. (Clinically Relevant) |
Allele Count |
Allele Frequency |
| 201 |
42693950 |
CAPN3 |
NM_000070.3:c.1466G>A |
NP_000061.1:p.Arg489Gln |
2 |
0.000838% |
| 459 |
42678383 |
CAPN3 |
NM_000070.3:c.398delC |
NP_000061.1:p.Ala133Glufs*6 |
1 |
0.000419% |
| 460 |
42678464 |
CAPN3 |
NM_000070.3:c.479delC |
NP_000061.1:p.Ala160Glufs*19 |
1 |
0.000419% |
