NEB
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000397345.8 |
|---|---|
| ClinVar P/LP records | 1871 |
| Low-record-burden flag | no |
| Unit rows | 1081 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 1.6% | 204 bp |
| Adjacent exon block | 5.7% | 1,041 bp |
| Downstream-CDS | 100.0% | 25,539 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 25,539 bp (>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 |
|---|---|---|---|---|
| Nemaline myopathy 2 | 1,554 | Boundary-CDS payload with large-payload burden | 0.065637 | 0.996782 |
| Arthrogryposis multiplex congenita 6 | 581 | Boundary-CDS payload with large-payload burden | 0.091222 | 0.998279 |
| Nemaline myopathy | 177 | Boundary-CDS payload with large-payload burden | 0.062147 | 1.000000 |
| Nemaline myopathy | 78 | Boundary-CDS payload with large-payload burden | 0.153846 | 1.000000 |
| NEB-related disorder | 26 | Boundary-CDS payload with large-payload burden | 0.153846 | 1.000000 |