BBS2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000245157.11 |
|---|---|
| ClinVar P/LP records | 264 |
| Low-record-burden flag | no |
| Unit rows | 91 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.5% | 228 bp |
| Adjacent exon block | 34.1% | 600 bp |
| Downstream-CDS | 95.5% | 2,046 bp |
Why this classification?
- Downstream-CDS record coverage is 95.5% with an estimated payload of 2,046 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 |
|---|---|---|---|---|
| Bardet-Biedl syndrome 2 | 190 | Boundary-CDS payload architecture | 0.384211 | 0.968421 |
| Bardet-Biedl syndrome | 150 | Boundary-CDS payload architecture | 0.326667 | 0.940000 |
| Retinitis pigmentosa 74 | 58 | Boundary-CDS payload architecture | 0.482759 | 0.965517 |
| Retinal dystrophy | 20 | Boundary-CDS payload architecture | 0.500000 | 0.950000 |
| BBS2-related disorder | 20 | Boundary-CDS payload architecture | 0.350000 | 0.950000 |