KCNH2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000262186.10 |
|---|---|
| ClinVar P/LP records | 720 |
| Low-record-burden flag | no |
| Unit rows | 79 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 19.3% | 388 bp |
| Adjacent exon block | 45.6% | 1,673 bp |
| Downstream-CDS | 98.5% | 3,401 bp |
Why this classification?
- Downstream-CDS record coverage is 98.5% with an estimated payload of 3,401 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 | 433 | Boundary-CDS payload architecture | 0.471132 | 0.969977 |
| Cardiovascular phenotype | 174 | Boundary-CDS payload architecture | 0.425287 | 0.977011 |
| Long QT syndrome 2 | 150 | Local compact architecture | 0.520000 | 0.966667 |
| Congenital long QT syndrome | 111 | Local compact architecture | 0.702703 | 1.000000 |
| Cardiac arrhythmia | 57 | Local compact architecture | 0.526316 | 1.000000 |