CREBBP
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000262367.10 |
|---|---|
| ClinVar P/LP records | 514 |
| Low-record-burden flag | no |
| Unit rows | 175 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 22.6% | 4,821 bp |
| Adjacent exon block | 37.7% | 5,599 bp |
| Downstream-CDS | 98.4% | 7,241 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 |
|---|---|---|---|---|
| Rubinstein-Taybi syndrome due to CREBBP mutations | 289 | Boundary-CDS payload architecture | 0.321799 | 0.972318 |
| Rubinstein-Taybi syndrome | 123 | Boundary-CDS payload architecture | 0.341463 | 0.959350 |
| Menke-Hennekam syndrome 1 | 29 | Boundary-CDS payload architecture | 0.758621 | 1.000000 |
| Inborn genetic diseases | 22 | Boundary-CDS payload architecture | 0.545455 | 0.954545 |
| CREBBP-related disorder | 21 | Boundary-CDS payload architecture | 0.428571 | 1.000000 |