BCKDHB
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000320393.9 |
|---|---|
| ClinVar P/LP records | 225 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 21.3% | 156 bp |
| Adjacent exon block | 60.9% | 656 bp |
| Downstream-CDS | 84.0% | 980 bp |
Why this classification?
- Downstream-CDS record coverage is 84.0% with an estimated payload of 980 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 |
|---|---|---|---|---|
| Maple syrup urine disease | 165 | Diffuse/moderate architecture | 0.606061 | 0.793939 |
| Maple syrup urine disease type 1B | 104 | Boundary-CDS payload architecture | 0.644231 | 0.826923 |
| Maple syrup urine disease type 1A | 87 | Diffuse/moderate architecture | 0.574713 | 0.793103 |