SCN8A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000627620.5 |
|---|---|
| ClinVar P/LP records | 362 |
| Low-record-burden flag | no |
| Unit rows | 151 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.4% | 6,583 bp |
| Adjacent exon block | 36.7% | 7,151 bp |
| Downstream-CDS | 100.0% | 5,940 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 | 135 | Boundary-CDS payload architecture | 0.429630 | 1.000000 |
| Developmental and epileptic encephalopathy, 13 | 107 | Boundary-CDS payload architecture | 0.383178 | 1.000000 |
| Cognitive impairment with or without cerebellar ataxia | 46 | Boundary-CDS payload architecture | 0.304348 | 0.978261 |
| Seizures, benign familial infantile, 5 | 27 | Boundary-CDS payload architecture | 0.444444 | 1.000000 |
| Inborn genetic diseases | 25 | Boundary-CDS payload architecture | 0.360000 | 1.000000 |