SACS
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000382292.9 |
|---|---|
| ClinVar P/LP records | 990 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 81.0% | 12,861 bp |
| Adjacent exon block | 96.8% | 14,701 bp |
| Downstream-CDS | 100.0% | 13,737 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 |
|---|---|---|---|---|
| Charlevoix-Saguenay spastic ataxia | 748 | Boundary-CDS payload architecture | 0.965241 | 0.998663 |
| Spastic paraplegia | 397 | Boundary-CDS payload architecture | 0.969773 | 1.000000 |