SCN5A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000423572.7 |
|---|---|
| ClinVar P/LP records | 535 |
| Low-record-burden flag | no |
| Unit rows | 157 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.6% | 3,497 bp |
| Adjacent exon block | 27.5% | 4,065 bp |
| Downstream-CDS | 100.0% | 6,045 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 |
|---|---|---|---|---|
| Cardiovascular phenotype | 131 | Boundary-CDS payload architecture | 0.229008 | 1.000000 |
| Brugada syndrome | 108 | Boundary-CDS payload architecture | 0.277778 | 1.000000 |
| Brugada syndrome 1 | 91 | Boundary-CDS payload architecture | 0.318681 | 1.000000 |
| Cardiac arrhythmia | 68 | Boundary-CDS payload architecture | 0.279412 | 1.000000 |
| Long QT syndrome 3 | 53 | Boundary-CDS payload architecture | 0.433962 | 1.000000 |
| Congenital long QT syndrome | 32 | Boundary-CDS payload architecture | 0.437500 | 1.000000 |
| Dilated cardiomyopathy 1E | 27 | Boundary-CDS payload architecture | 0.296296 | 1.000000 |
| Sick sinus syndrome 1 | 25 | Boundary-CDS payload architecture | 0.320000 | 1.000000 |