CEP290
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000552810.6 |
|---|---|
| ClinVar P/LP records | 949 |
| Low-record-burden flag | no |
| Unit rows | 313 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.6% | 456 bp |
| Adjacent exon block | 15.1% | 1,091 bp |
| Downstream-CDS | 100.0% | 7,437 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 7,437 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Meckel-Gruber syndrome | 625 | Boundary-CDS payload architecture | 0.163200 | 0.998400 |
| Nephronophthisis | 624 | Boundary-CDS payload architecture | 0.163462 | 0.998397 |
| Joubert syndrome | 624 | Boundary-CDS payload architecture | 0.163462 | 0.998397 |
| Bardet-Biedl syndrome 14 | 461 | Boundary-CDS payload architecture | 0.138829 | 1.000000 |
| Leber congenital amaurosis | 274 | Boundary-CDS payload architecture | 0.167883 | 1.000000 |
| Joubert syndrome 5 | 252 | Boundary-CDS payload architecture | 0.150794 | 1.000000 |
| Meckel syndrome, type 4 | 235 | Boundary-CDS payload architecture | 0.148936 | 1.000000 |
| Leber congenital amaurosis 10 | 232 | Boundary-CDS payload architecture | 0.150862 | 0.995690 |