KCNQ1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000155840.12 |
|---|---|
| ClinVar P/LP records | 536 |
| Low-record-burden flag | no |
| Unit rows | 85 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.9% | 111 bp |
| Adjacent exon block | 49.8% | 555 bp |
| Downstream-CDS | 90.7% | 1,642 bp |
Why this classification?
- Downstream-CDS record coverage is 90.7% with an estimated payload of 1,642 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 |
|---|---|---|---|---|
| Long QT syndrome | 362 | Boundary-CDS payload architecture | 0.511050 | 0.908840 |
| Long QT syndrome 1 | 193 | Boundary-CDS payload architecture | 0.512953 | 0.932642 |
| Cardiovascular phenotype | 176 | Boundary-CDS payload architecture | 0.528409 | 0.937500 |
| Congenital long QT syndrome | 156 | Boundary-CDS payload architecture | 0.634615 | 0.955128 |
| Cardiac arrhythmia | 110 | Boundary-CDS payload architecture | 0.454545 | 0.972727 |
| Jervell and Lange-Nielsen syndrome 1 | 58 | Boundary-CDS payload architecture | 0.500000 | 0.948276 |
| Atrial fibrillation, familial, 3 | 45 | Boundary-CDS payload architecture | 0.533333 | 0.933333 |
| Short QT syndrome type 2 | 42 | Boundary-CDS payload architecture | 0.547619 | 0.928571 |