BMPR2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000374580.10 |
|---|---|
| ClinVar P/LP records | 502 |
| Low-record-burden flag | no |
| Unit rows | 67 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.7% | 1,280 bp |
| Adjacent exon block | 47.0% | 1,899 bp |
| Downstream-CDS | 96.0% | 3,038 bp |
Why this classification?
- Downstream-CDS record coverage is 96.0% with an estimated payload of 3,038 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 |
|---|---|---|---|---|
| Pulmonary hypertension, primary, 1 | 319 | Boundary-CDS payload architecture | 0.479624 | 0.940439 |
| Pulmonary arterial hypertension | 168 | Boundary-CDS payload architecture | 0.452381 | 0.863095 |
| Primary pulmonary hypertension | 147 | Boundary-CDS payload architecture | 0.530612 | 0.945578 |
| Idiopathic and/or familial pulmonary arterial hypertension | 43 | Boundary-CDS payload architecture | 0.511628 | 0.883721 |
| Pulmonary venoocclusive disease 1 | 30 | Boundary-CDS payload architecture | 0.500000 | 0.966667 |