COL4A1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000375820.10 |
|---|---|
| ClinVar P/LP records | 396 |
| Low-record-burden flag | no |
| Unit rows | 301 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.3% | 186 bp |
| Adjacent exon block | 19.7% | 621 bp |
| Downstream-CDS | 99.0% | 4,923 bp |
Why this classification?
- Downstream-CDS record coverage is 99.0%, 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 |
|---|---|---|---|---|
| Brain small vessel disease 1 with or without ocular anomalies | 135 | Boundary-CDS payload architecture | 0.296296 | 0.977778 |
| Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome | 72 | Boundary-CDS payload architecture | 0.291667 | 0.986111 |
| Microangiopathy and leukoencephalopathy, pontine, autosomal dominant | 48 | Boundary-CDS payload architecture | 0.229167 | 0.979167 |
| Retinal arterial tortuosity | 38 | Boundary-CDS payload architecture | 0.236842 | 1.000000 |
| Hemorrhage, intracerebral, susceptibility to | 38 | Boundary-CDS payload architecture | 0.236842 | 1.000000 |
| COL4A1-related disorder | 26 | Boundary-CDS payload architecture | 0.307692 | 1.000000 |