COL4A4
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000396625.5 |
|---|---|
| ClinVar P/LP records | 860 |
| Low-record-burden flag | no |
| Unit rows | 277 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.9% | 184 bp |
| Adjacent exon block | 16.0% | 804 bp |
| Downstream-CDS | 99.9% | 5,070 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Autosomal recessive Alport syndrome | 439 | Boundary-CDS payload architecture | 0.173121 | 0.997722 |
| Alport syndrome | 247 | Boundary-CDS payload architecture | 0.210526 | 0.995951 |
| Hematuria, benign familial, 1 | 224 | Boundary-CDS payload architecture | 0.187500 | 1.000000 |
| Benign familial hematuria | 69 | Boundary-CDS payload architecture | 0.246377 | 1.000000 |
| Autosomal dominant Alport syndrome | 46 | Boundary-CDS payload architecture | 0.217391 | 1.000000 |
| COL4A4-related disorder | 32 | Boundary-CDS payload architecture | 0.281250 | 1.000000 |