CHRNE
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000649488.2 |
|---|---|
| ClinVar P/LP records | 264 |
| Low-record-burden flag | no |
| Unit rows | 61 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 17.8% | 187 bp |
| Adjacent exon block | 59.5% | 725 bp |
| Downstream-CDS | 98.1% | 1,433 bp |
Why this classification?
- Downstream-CDS record coverage is 98.1% with an estimated payload of 1,433 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 |
|---|---|---|---|---|
| Congenital myasthenic syndrome 4A | 223 | Local compact architecture | 0.605381 | 0.977578 |
| Congenital myasthenic syndrome | 83 | Local compact architecture | 0.674699 | 0.987952 |
| Congenital myasthenic syndrome 4C | 66 | Local compact architecture | 0.590909 | 0.984848 |
| Congenital myasthenic syndrome 4B | 62 | Local compact architecture | 0.612903 | 0.951613 |