NIPBL
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000282516.13 |
|---|---|
| ClinVar P/LP records | 581 |
| Low-record-burden flag | no |
| Unit rows | 271 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 13.6% | 1,626 bp |
| Adjacent exon block | 26.3% | 2,706 bp |
| Downstream-CDS | 99.5% | 8,412 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Cornelia de Lange syndrome 1 | 487 | Boundary-CDS payload architecture | 0.268994 | 0.995893 |
| NIPBL-related disorder | 23 | Boundary-CDS payload architecture | 0.347826 | 1.000000 |