PKHD1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000371117.8 |
|---|---|
| ClinVar P/LP records | 1558 |
| Low-record-burden flag | no |
| Unit rows | 391 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.6% | 1,608 bp |
| Adjacent exon block | 18.5% | 2,280 bp |
| Downstream-CDS | 100.0% | 12,222 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 12,222 bp (5–20 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 recessive polycystic kidney disease | 1,124 | Boundary-CDS payload architecture | 0.189502 | 0.995552 |
| Polycystic kidney disease 4 | 807 | Boundary-CDS payload architecture | 0.193309 | 0.997522 |
| PKHD1-related disorder | 64 | Boundary-CDS payload architecture | 0.218750 | 1.000000 |
| Autosomal dominant polycystic liver disease | 22 | Boundary-CDS payload architecture | 0.318182 | 1.000000 |