HPS3
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000296051.7 |
|---|---|
| ClinVar P/LP records | 280 |
| Low-record-burden flag | no |
| Unit rows | 91 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.8% | 495 bp |
| Adjacent exon block | 47.1% | 1,249 bp |
| Downstream-CDS | 92.5% | 2,795 bp |
Why this classification?
- Downstream-CDS record coverage is 92.5% with an estimated payload of 2,795 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 |
|---|---|---|---|---|
| Hermansky-Pudlak syndrome 3 | 167 | Boundary-CDS payload architecture | 0.449102 | 0.922156 |
| Hermansky-Pudlak syndrome | 70 | Boundary-CDS payload architecture | 0.400000 | 0.957143 |