RYR1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000359596.8 |
|---|---|
| ClinVar P/LP records | 770 |
| Low-record-burden flag | no |
| Unit rows | 625 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 6.6% | 813 bp |
| Adjacent exon block | 13.1% | 1,374 bp |
| Downstream-CDS | 99.9% | 15,069 bp |
Why this classification?
- Downstream-CDS record coverage is 99.9%, but the estimated downstream payload is 15,069 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 |
|---|---|---|---|---|
| RYR1-related disorder | 520 | Boundary-CDS payload architecture | 0.150000 | 0.996154 |
| Malignant hyperthermia, susceptibility to, 1 | 144 | Boundary-CDS payload architecture | 0.208333 | 0.993056 |
| Central core myopathy | 141 | Boundary-CDS payload architecture | 0.234043 | 1.000000 |
| Congenital multicore myopathy with external ophthalmoplegia | 108 | Boundary-CDS payload architecture | 0.120370 | 0.990741 |
| King Denborough syndrome | 63 | Boundary-CDS payload architecture | 0.142857 | 1.000000 |
| Malignant hyperthermia of anesthesia | 43 | Boundary-CDS payload architecture | 0.255814 | 1.000000 |
| RYR1-related myopathy | 37 | Boundary-CDS payload architecture | 0.216216 | 1.000000 |
| succinylcholine response - Toxicity | 32 | Boundary-CDS payload architecture | 0.406250 | 1.000000 |