CRB1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000367400.8 |
|---|---|
| ClinVar P/LP records | 574 |
| Low-record-burden flag | no |
| Unit rows | 61 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.0% | 907 bp |
| Adjacent exon block | 65.7% | 2,761 bp |
| Downstream-CDS | 98.6% | 4,148 bp |
Why this classification?
- Downstream-CDS record coverage is 98.6% with an estimated payload of 4,148 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 8 | 454 | Boundary-CDS payload architecture | 0.660793 | 0.975771 |
| Retinitis pigmentosa 12 | 377 | Boundary-CDS payload architecture | 0.660477 | 0.973475 |
| Leber congenital amaurosis | 125 | Boundary-CDS payload architecture | 0.664000 | 0.976000 |
| Retinal dystrophy | 106 | Boundary-CDS payload architecture | 0.707547 | 0.990566 |
| Pigmented paravenous retinochoroidal atrophy | 84 | Boundary-CDS payload architecture | 0.714286 | 0.988095 |
| Retinitis pigmentosa | 35 | Boundary-CDS payload architecture | 0.685714 | 0.942857 |