COL2A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000380518.8 |
|---|---|
| ClinVar P/LP records | 1101 |
| Low-record-burden flag | no |
| Unit rows | 313 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.3% | 162 bp |
| Adjacent exon block | 15.2% | 882 bp |
| Downstream-CDS | 99.5% | 4,376 bp |
Why this classification?
- Downstream-CDS record coverage is 99.5%, but the estimated downstream payload is 4,376 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 |
|---|---|---|---|---|
| Stickler syndrome type 1 | 139 | Boundary-CDS payload architecture | 0.201439 | 0.992806 |
| COL2A1-related disorder | 60 | Boundary-CDS payload architecture | 0.233333 | 1.000000 |
| Achondrogenesis type II | 60 | Boundary-CDS payload architecture | 0.333333 | 0.983333 |
| Spondyloepiphyseal dysplasia congenita | 58 | Boundary-CDS payload architecture | 0.241379 | 0.965517 |
| Kniest dysplasia | 44 | Boundary-CDS payload architecture | 0.272727 | 0.977273 |
| Stickler syndrome, type I, nonsyndromic ocular | 41 | Boundary-CDS payload architecture | 0.195122 | 0.975610 |
| Spondyloperipheral dysplasia | 40 | Boundary-CDS payload architecture | 0.225000 | 0.975000 |
| Spondyloepimetaphyseal dysplasia, Strudwick type | 36 | Boundary-CDS payload architecture | 0.277778 | 0.972222 |