RYR2
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000366574.7 |
|---|---|
| ClinVar P/LP records | 254 |
| Low-record-burden flag | no |
| Unit rows | 619 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.5% | 1,298 bp |
| Adjacent exon block | 29.5% | 1,703 bp |
| Downstream-CDS | 99.2% | 14,853 bp |
Why this classification?
- Downstream-CDS record coverage is 99.2%, but the estimated downstream payload is 14,853 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 |
|---|---|---|---|---|
| Catecholaminergic polymorphic ventricular tachycardia 1 | 184 | Boundary-CDS payload architecture | 0.309783 | 0.989130 |
| Cardiovascular phenotype | 38 | Boundary-CDS payload architecture | 0.210526 | 1.000000 |