PKD1
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000262304.9 |
|---|---|
| ClinVar P/LP records | 2139 |
| Low-record-burden flag | no |
| Unit rows | 265 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 22.2% | 3,620 bp |
| Adjacent exon block | 30.6% | 4,818 bp |
| Downstream-CDS | 97.8% | 12,694 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 |
|---|---|---|---|---|
| Polycystic kidney disease, adult type | 1,616 | Boundary-CDS payload architecture | 0.311881 | 0.974629 |
| PKD1-related disorder | 150 | Boundary-CDS payload architecture | 0.420000 | 0.973333 |
| Polycystic kidney disease | 141 | Boundary-CDS payload architecture | 0.382979 | 0.971631 |
| Autosomal dominant polycystic kidney disease | 113 | Boundary-CDS payload architecture | 0.318584 | 0.946903 |
| Inborn genetic diseases | 67 | Boundary-CDS payload architecture | 0.373134 | 0.985075 |
| PKD1-Biallelic Autosomal Recessive Polycystic Kidney Disease | 20 | Boundary-CDS payload architecture | 0.250000 | 1.000000 |