DMD
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000357033.9 |
|---|---|
| ClinVar P/LP records | 2119 |
| Low-record-burden flag | no |
| Unit rows | 463 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 2.7% | 242 bp |
| Adjacent exon block | 9.4% | 896 bp |
| Downstream-CDS | 99.7% | 11,024 bp |
Why this classification?
- Downstream-CDS record coverage is 99.7%, but the estimated downstream payload is 11,024 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Duchenne muscular dystrophy | 1,600 | Boundary-CDS payload architecture | 0.098125 | 0.986250 |
| Becker muscular dystrophy | 281 | Boundary-CDS payload architecture | 0.099644 | 0.985765 |
| Becker muscular dystrophy, Cardiomyopathy, Duchenne muscular dystrophy, Dystrophin deficiency | 132 | Boundary-CDS payload architecture | 0.151515 | 0.984848 |
| Neuromuscular disease caused by qualitative or quantitative defects of dystrophin | 81 | Boundary-CDS payload architecture | 0.148148 | 0.987654 |
| Dilated cardiomyopathy 3B | 57 | Boundary-CDS payload architecture | 0.140351 | 0.947368 |
| Cardiovascular phenotype | 36 | Boundary-CDS payload architecture | 0.166667 | 0.888889 |
| Dystrophin deficiency | 29 | Boundary-CDS payload architecture | 0.206897 | 0.965517 |
| Cardiomyopathy | 25 | Boundary-CDS payload architecture | 0.240000 | 0.960000 |