PCDH19
Compact local exon/block record cluster
| MANE transcript | ENST00000373034.8 |
|---|---|
| ClinVar P/LP records | 433 |
| Low-record-burden flag | no |
| Unit rows | 25 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 84.8% | 3,823 bp |
| Adjacent exon block | 97.5% | 4,524 bp |
| Downstream-CDS | 15.9% | 1,297 bp |
Why this classification?
- Local exon/block coverage is 97.5% with an estimated payload of 4,524 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| Developmental and epileptic encephalopathy, 9 | 344 | Donor/payload-burden caveat | 0.970930 | 0.168605 |