HBB
Compact local exon/block record cluster
| MANE transcript | ENST00000335295.4 |
|---|---|
| ClinVar P/LP records | 428 |
| Low-record-burden flag | no |
| Unit rows | 8 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 43.9% | 223 bp |
| Adjacent exon block | 89.0% | 628 bp |
| Downstream-CDS | 72.9% | 349 bp |
Why this classification?
- Local exon/block coverage is 89.0% with an estimated payload of 628 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| beta Thalassemia | 285 | Local compact architecture | 0.866667 | 0.585965 |
| Erythrocytosis, familial, 6 | 102 | Local compact architecture | 0.872549 | 0.578431 |
| Beta-thalassemia HBB/LCRB | 102 | Local compact architecture | 0.862745 | 0.500000 |
| Dominant beta-thalassemia | 82 | Local compact architecture | 0.841463 | 0.475610 |
| METHEMOGLOBINEMIA, BETA TYPE | 75 | Local compact architecture | 0.826667 | 0.440000 |
| Heinz body anemia | 74 | Local compact architecture | 0.824324 | 0.418919 |
| Malaria, susceptibility to | 72 | Local compact architecture | 0.819444 | 0.416667 |
| Hb SS disease | 72 | Local compact architecture | 0.819444 | 0.416667 |