PKP2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000340811.9 |
|---|---|
| ClinVar P/LP records | 344 |
| Low-record-burden flag | no |
| Unit rows | 67 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 24.7% | 698 bp |
| Adjacent exon block | 54.1% | 1,333 bp |
| Downstream-CDS | 91.9% | 2,288 bp |
Why this classification?
- Downstream-CDS record coverage is 91.9% with an estimated payload of 2,288 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Arrhythmogenic right ventricular dysplasia 9 | 246 | Boundary-CDS payload architecture | 0.532520 | 0.890244 |
| Cardiovascular phenotype | 94 | Boundary-CDS payload architecture | 0.574468 | 0.904255 |
| Arrhythmogenic right ventricular cardiomyopathy | 87 | Boundary-CDS payload architecture | 0.574713 | 0.931034 |
| Cardiomyopathy | 74 | Boundary-CDS payload architecture | 0.527027 | 0.918919 |
| Familial isolated arrhythmogenic right ventricular dysplasia | 27 | Boundary-CDS payload architecture | 0.444444 | 0.888889 |