COL5A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000371817.8 |
|---|---|
| ClinVar P/LP records | 361 |
| Low-record-burden flag | no |
| Unit rows | 385 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.5% | 234 bp |
| Adjacent exon block | 15.0% | 3,359 bp |
| Downstream-CDS | 97.5% | 5,405 bp |
Why this classification?
- Downstream-CDS record coverage is 97.5%, but the estimated downstream payload is 5,405 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Ehlers-Danlos syndrome, classic type, 1 | 272 | Boundary-CDS payload architecture | 0.154412 | 0.959559 |
| Familial thoracic aortic aneurysm and aortic dissection | 25 | Boundary-CDS payload architecture | 0.160000 | 0.960000 |