COL3A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000304636.9 |
|---|---|
| ClinVar P/LP records | 937 |
| Low-record-burden flag | no |
| Unit rows | 295 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.8% | 99 bp |
| Adjacent exon block | 14.8% | 540 bp |
| Downstream-CDS | 99.8% | 4,319 bp |
Why this classification?
- Downstream-CDS record coverage is 99.8%, but the estimated downstream payload is 4,319 bp (≤5 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, type 4 | 790 | Boundary-CDS payload architecture | 0.153165 | 0.983544 |
| Familial thoracic aortic aneurysm and aortic dissection | 179 | Boundary-CDS payload architecture | 0.156425 | 1.000000 |
| Polymicrogyria with or without vascular-type Ehlers-Danlos syndrome | 31 | Boundary-CDS payload architecture | 0.161290 | 1.000000 |