COL4A3
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000396578.8 |
|---|---|
| ClinVar P/LP records | 855 |
| Low-record-burden flag | no |
| Unit rows | 301 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.0% | 169 bp |
| Adjacent exon block | 13.7% | 648 bp |
| Downstream-CDS | 98.8% | 4,923 bp |
Why this classification?
- Downstream-CDS record coverage is 98.8%, but the estimated downstream payload is 4,923 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 |
|---|---|---|---|---|
| Autosomal dominant Alport syndrome | 336 | Boundary-CDS payload architecture | 0.157738 | 0.994048 |
| Alport syndrome | 297 | Boundary-CDS payload architecture | 0.154882 | 0.979798 |
| Autosomal recessive Alport syndrome | 222 | Boundary-CDS payload architecture | 0.144144 | 0.981982 |
| Alport syndrome 3b, autosomal recessive | 221 | Boundary-CDS payload architecture | 0.149321 | 0.986425 |
| Hematuria, benign familial, 2 | 192 | Boundary-CDS payload architecture | 0.156250 | 0.989583 |
| Benign familial hematuria | 42 | Boundary-CDS payload architecture | 0.214286 | 1.000000 |
| COL4A3-related disorder | 25 | Boundary-CDS payload architecture | 0.200000 | 0.960000 |