DYSF
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000410020.8 |
|---|---|
| ClinVar P/LP records | 913 |
| Low-record-burden flag | no |
| Unit rows | 325 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.2% | 143 bp |
| Adjacent exon block | 12.5% | 705 bp |
| Downstream-CDS | 99.1% | 6,266 bp |
Why this classification?
- Downstream-CDS record coverage is 99.1%, but the estimated downstream payload is 6,266 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 |
|---|---|---|---|---|
| Neuromuscular disease caused by qualitative or quantitative defects of dysferlin | 525 | Boundary-CDS payload architecture | 0.133333 | 0.988571 |
| Autosomal recessive limb-girdle muscular dystrophy type 2B | 452 | Boundary-CDS payload architecture | 0.132743 | 0.991150 |
| Miyoshi muscular dystrophy 1 | 404 | Boundary-CDS payload architecture | 0.150990 | 0.990099 |
| Distal myopathy with anterior tibial onset | 213 | Boundary-CDS payload architecture | 0.154930 | 0.995305 |
| Autosomal recessive limb-girdle muscular dystrophy | 176 | Boundary-CDS payload architecture | 0.153409 | 0.971591 |
| DYSF-related disorder | 20 | Boundary-CDS payload architecture | 0.200000 | 1.000000 |