CAPN3
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000397163.8 |
|---|---|
| ClinVar P/LP records | 509 |
| Low-record-burden flag | no |
| Unit rows | 133 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 9.2% | 169 bp |
| Adjacent exon block | 30.1% | 1,106 bp |
| Downstream-CDS | 91.9% | 2,154 bp |
Why this classification?
- Downstream-CDS record coverage is 91.9% with an estimated payload of 2,154 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
How to read this page
Record coverage summarizes ClinVar P/LP records mapped to this gene. It does not estimate patient coverage, editing efficiency, therapeutic efficacy, or safety.
Downstream-CDS values are transcript-boundary hypotheses. High downstream coverage can be boundary-driven and should be read with payload and context burden.
Condition-associated pathogenic-record groups
Record-level ClinVar condition facets. These are not patient cohorts, disease prevalence, or patient coverage.
| Condition label | P/LP records | Condition architecture | Local coverage | Boundary-CDS coverage |
|---|---|---|---|---|
| Autosomal recessive limb-girdle muscular dystrophy type 2A | 429 | Boundary-CDS payload architecture | 0.303030 | 0.913753 |
| Muscular dystrophy, limb-girdle, autosomal dominant 4 | 203 | Boundary-CDS payload architecture | 0.290640 | 0.921182 |
| Autosomal recessive limb-girdle muscular dystrophy | 87 | Boundary-CDS payload architecture | 0.356322 | 0.919540 |