PAH
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000553106.6 |
|---|---|
| ClinVar P/LP records | 886 |
| Low-record-burden flag | no |
| Unit rows | 67 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.1% | 197 bp |
| Adjacent exon block | 51.7% | 674 bp |
| Downstream-CDS | 98.0% | 1,296 bp |
Why this classification?
- Downstream-CDS record coverage is 98.0% with an estimated payload of 1,296 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 |
|---|---|---|---|---|
| Phenylketonuria | 878 | Boundary-CDS payload architecture | 0.518223 | 0.962415 |
| PAH-related disorder | 51 | Boundary-CDS payload architecture | 0.568627 | 0.980392 |
| Inborn genetic diseases | 32 | Boundary-CDS payload architecture | 0.562500 | 0.937500 |
| Hyperphenylalaninemia | 25 | Boundary-CDS payload architecture | 0.440000 | 0.920000 |