ENG
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000373203.9 |
|---|---|
| ClinVar P/LP records | 607 |
| Low-record-burden flag | no |
| Unit rows | 79 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.9% | 258 bp |
| Adjacent exon block | 47.0% | 774 bp |
| Downstream-CDS | 96.4% | 1,907 bp |
Why this classification?
- Downstream-CDS record coverage is 96.4% with an estimated payload of 1,907 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 |
|---|---|---|---|---|
| Hereditary hemorrhagic telangiectasia | 405 | Boundary-CDS payload architecture | 0.459259 | 0.950617 |
| Cardiovascular phenotype | 222 | Boundary-CDS payload architecture | 0.486486 | 0.959459 |
| Telangiectasia, hereditary hemorrhagic, type 1 | 192 | Boundary-CDS payload architecture | 0.432292 | 0.906250 |
| ENG-related disorder | 27 | Boundary-CDS payload architecture | 0.518519 | 1.000000 |