COL1A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000225964.10 |
|---|---|
| ClinVar P/LP records | 1430 |
| Low-record-burden flag | no |
| Unit rows | 295 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.3% | 283 bp |
| Adjacent exon block | 14.6% | 2,373 bp |
| Downstream-CDS | 98.5% | 4,289 bp |
Why this classification?
- Downstream-CDS record coverage is 98.5%, but the estimated downstream payload is 4,289 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 | 999 | Boundary-CDS payload architecture | 0.144144 | 0.975976 |
| Osteogenesis imperfecta | 139 | Boundary-CDS payload architecture | 0.158273 | 0.992806 |
| Osteogenesis imperfecta, perinatal lethal | 129 | Boundary-CDS payload architecture | 0.178295 | 0.984496 |
| Osteogenesis imperfecta with normal sclerae, dominant form | 114 | Boundary-CDS payload architecture | 0.157895 | 0.982456 |
| Osteogenesis imperfecta type III | 96 | Boundary-CDS payload architecture | 0.166667 | 0.968750 |
| COL1A1-related disorder | 71 | Boundary-CDS payload architecture | 0.211268 | 0.971831 |
| Infantile cortical hyperostosis | 47 | Boundary-CDS payload architecture | 0.170213 | 1.000000 |
| Ehlers-Danlos syndrome, arthrochalasia type | 44 | Boundary-CDS payload architecture | 0.159091 | 1.000000 |