PTCH1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000331920.11 |
|---|---|
| ClinVar P/LP records | 736 |
| Low-record-burden flag | no |
| Unit rows | 132 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 9.9% | 310 bp |
| Adjacent exon block | 33.6% | 1,321 bp |
| Downstream-CDS | 98.2% | 4,140 bp |
Why this classification?
- Downstream-CDS record coverage is 98.2% with an estimated payload of 4,140 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 |
|---|---|---|---|---|
| Gorlin syndrome | 550 | Boundary-CDS payload architecture | 0.330909 | 0.980000 |
| Hereditary cancer-predisposing syndrome | 153 | Boundary-CDS payload architecture | 0.339869 | 0.980392 |
| Basal cell nevus syndrome 1 | 53 | Boundary-CDS payload architecture | 0.358491 | 0.962264 |