COL1A2
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000297268.11 |
|---|---|
| ClinVar P/LP records | 722 |
| Low-record-burden flag | no |
| Unit rows | 301 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.3% | 99 bp |
| Adjacent exon block | 15.0% | 486 bp |
| Downstream-CDS | 100.0% | 4,028 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 4,028 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 |
|---|---|---|---|---|
| Osteogenesis imperfecta type I | 429 | Boundary-CDS payload architecture | 0.165501 | 0.997669 |
| Ehlers-Danlos syndrome, classic type, 1 | 398 | Boundary-CDS payload architecture | 0.168342 | 1.000000 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 104 | Boundary-CDS payload architecture | 0.259615 | 1.000000 |
| Osteogenesis imperfecta, perinatal lethal | 86 | Boundary-CDS payload architecture | 0.197674 | 0.976744 |
| Osteogenesis imperfecta type III | 74 | Boundary-CDS payload architecture | 0.243243 | 1.000000 |
| Osteogenesis imperfecta | 61 | Boundary-CDS payload architecture | 0.278689 | 1.000000 |
| Ehlers-Danlos syndrome, arthrochalasia type, 2 | 40 | Boundary-CDS payload architecture | 0.200000 | 1.000000 |
| COL1A2-related disorder | 35 | Boundary-CDS payload architecture | 0.228571 | 1.000000 |