RP1
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000220676.2 |
|---|---|
| ClinVar P/LP records | 334 |
| Low-record-burden flag | no |
| Unit rows | 13 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 83.8% | 6,165 bp |
| Adjacent exon block | 99.4% | 6,964 bp |
| Downstream-CDS | 100.0% | 6,468 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 |
|---|---|---|---|---|
| Retinal dystrophy | 84 | Boundary-CDS payload architecture | 1.000000 | 1.000000 |
| Retinitis pigmentosa 1 | 78 | Boundary-CDS payload architecture | 0.974359 | 1.000000 |
| Retinitis pigmentosa | 50 | Boundary-CDS payload architecture | 1.000000 | 1.000000 |