RPGR
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000645032.1 |
|---|---|
| ClinVar P/LP records | 790 |
| Low-record-burden flag | no |
| Unit rows | 79 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 58.9% | 2,838 bp |
| Adjacent exon block | 67.8% | 3,346 bp |
| Downstream-CDS | 99.6% | 3,428 bp |
Why this classification?
- Downstream-CDS record coverage is 99.6% with an estimated payload of 3,428 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Primary ciliary dyskinesia | 380 | Boundary-CDS payload architecture | 0.694737 | 0.981579 |
| Retinal dystrophy | 219 | Boundary-CDS payload architecture | 0.721461 | 0.986301 |
| Retinitis pigmentosa 3 | 209 | Boundary-CDS payload architecture | 0.808612 | 0.990431 |
| RPGR-related retinopathy | 159 | Boundary-CDS payload architecture | 0.603774 | 0.974843 |
| Retinitis pigmentosa | 114 | Boundary-CDS payload architecture | 0.640351 | 0.991228 |
| X-linked cone-rod dystrophy 1 | 33 | Boundary-CDS payload architecture | 0.848485 | 1.000000 |