SCN2A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000375437.7 |
|---|---|
| ClinVar P/LP records | 690 |
| Low-record-burden flag | no |
| Unit rows | 151 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.4% | 3,676 bp |
| Adjacent exon block | 34.1% | 4,244 bp |
| Downstream-CDS | 100.0% | 6,015 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 |
|---|---|---|---|---|
| Developmental and epileptic encephalopathy, 11 | 396 | Boundary-CDS payload architecture | 0.356061 | 1.000000 |
| Seizures, benign familial infantile, 3 | 324 | Boundary-CDS payload architecture | 0.370370 | 1.000000 |
| Complex neurodevelopmental disorder | 81 | Boundary-CDS payload architecture | 0.432099 | 1.000000 |
| Inborn genetic diseases | 46 | Boundary-CDS payload architecture | 0.369565 | 1.000000 |
| SCN2A-related disorder | 37 | Boundary-CDS payload architecture | 0.297297 | 1.000000 |
| Developmental and epileptic encephalopathy | 32 | Boundary-CDS payload architecture | 0.468750 | 1.000000 |
| Episodic ataxia, type 9 | 29 | Boundary-CDS payload architecture | 0.344828 | 1.000000 |
| West syndrome | 22 | Boundary-CDS payload architecture | 0.500000 | 1.000000 |