SCN1A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000674923.1 |
|---|---|
| ClinVar P/LP records | 2107 |
| Low-record-burden flag | no |
| Unit rows | 163 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 18.4% | 6,610 bp |
| Adjacent exon block | 29.0% | 7,178 bp |
| Downstream-CDS | 100.0% | 6,027 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 | 1,132 | Boundary-CDS payload architecture | 0.295053 | 0.999117 |
| Severe myoclonic epilepsy in infancy | 580 | Boundary-CDS payload architecture | 0.281034 | 0.996552 |
| Generalized epilepsy with febrile seizures plus, type 2 | 193 | Boundary-CDS payload architecture | 0.253886 | 0.994819 |
| Developmental and epileptic encephalopathy | 72 | Boundary-CDS payload architecture | 0.236111 | 0.958333 |
| Inborn genetic diseases | 68 | Boundary-CDS payload architecture | 0.264706 | 1.000000 |
| Developmental and epileptic encephalopathy 6B | 68 | Boundary-CDS payload architecture | 0.264706 | 1.000000 |
| Migraine, familial hemiplegic, 3 | 64 | Boundary-CDS payload architecture | 0.296875 | 1.000000 |
| Seizure | 51 | Boundary-CDS payload architecture | 0.254902 | 1.000000 |