RPE65
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000262340.6 |
|---|---|
| ClinVar P/LP records | 327 |
| Low-record-burden flag | no |
| Unit rows | 73 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 10.1% | 151 bp |
| Adjacent exon block | 40.7% | 631 bp |
| Downstream-CDS | 99.1% | 1,588 bp |
Why this classification?
- Downstream-CDS record coverage is 99.1% with an estimated payload of 1,588 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 |
|---|---|---|---|---|
| Leber congenital amaurosis 2 | 257 | Boundary-CDS payload architecture | 0.428016 | 0.976654 |
| Retinitis pigmentosa 20 | 213 | Boundary-CDS payload architecture | 0.413146 | 0.967136 |
| RPE65-related recessive retinopathy | 145 | Boundary-CDS payload architecture | 0.400000 | 0.979310 |
| Leber congenital amaurosis | 131 | Boundary-CDS payload architecture | 0.480916 | 0.961832 |
| Retinitis pigmentosa 87 with choroidal involvement | 44 | Boundary-CDS payload architecture | 0.431818 | 0.954545 |
| Retinal dystrophy | 40 | Boundary-CDS payload architecture | 0.425000 | 0.950000 |