KCNQ2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000359125.7 |
|---|---|
| ClinVar P/LP records | 745 |
| Low-record-burden flag | no |
| Unit rows | 91 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.6% | 176 bp |
| Adjacent exon block | 52.1% | 604 bp |
| Downstream-CDS | 93.8% | 2,320 bp |
Why this classification?
- Downstream-CDS record coverage is 93.8% with an estimated payload of 2,320 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 |
|---|---|---|---|---|
| Early-infantile DEE | 428 | Boundary-CDS payload architecture | 0.516355 | 0.922897 |
| Developmental and epileptic encephalopathy, 7 | 197 | Boundary-CDS payload architecture | 0.644670 | 0.969543 |
| Seizures, benign familial neonatal, 1 | 154 | Boundary-CDS payload architecture | 0.538961 | 0.954545 |
| Inborn genetic diseases | 39 | Boundary-CDS payload architecture | 0.589744 | 0.923077 |
| Seizure | 33 | Boundary-CDS payload architecture | 0.606061 | 0.909091 |
| KCNQ2-related disorder | 32 | Boundary-CDS payload architecture | 0.750000 | 0.968750 |