COL4A5
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000328300.11 |
|---|---|
| ClinVar P/LP records | 1369 |
| Low-record-burden flag | no |
| Unit rows | 307 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.2% | 169 bp |
| Adjacent exon block | 13.9% | 657 bp |
| Downstream-CDS | 99.1% | 4,992 bp |
Why this classification?
- Downstream-CDS record coverage is 99.1%, but the estimated downstream payload is 4,992 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 |
|---|---|---|---|---|
| X-linked Alport syndrome | 825 | Boundary-CDS payload architecture | 0.129697 | 0.987879 |
| Alport syndrome | 48 | Boundary-CDS payload architecture | 0.208333 | 1.000000 |
| COL4A5-related disorder | 40 | Boundary-CDS payload architecture | 0.275000 | 1.000000 |