DSP
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000379802.8 |
|---|---|
| ClinVar P/LP records | 816 |
| Low-record-burden flag | no |
| Unit rows | 133 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 29.2% | 2,295 bp |
| Adjacent exon block | 61.2% | 6,659 bp |
| Downstream-CDS | 98.5% | 8,443 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 |
|---|---|---|---|---|
| Arrhythmogenic cardiomyopathy with wooly hair and keratoderma | 582 | Boundary-CDS payload architecture | 0.594502 | 0.979381 |
| Arrhythmogenic right ventricular dysplasia 8 | 573 | Boundary-CDS payload architecture | 0.595113 | 0.980803 |
| Cardiovascular phenotype | 199 | Boundary-CDS payload architecture | 0.597990 | 0.974874 |
| Cardiomyopathy | 118 | Boundary-CDS payload architecture | 0.711864 | 0.991525 |
| Arrhythmogenic right ventricular cardiomyopathy | 54 | Boundary-CDS payload architecture | 0.611111 | 0.981481 |
| Cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis | 41 | Boundary-CDS payload architecture | 0.536585 | 0.951220 |
| Primary dilated cardiomyopathy | 27 | Boundary-CDS payload architecture | 0.629630 | 1.000000 |
| Lethal acantholytic epidermolysis bullosa | 23 | Boundary-CDS payload architecture | 0.695652 | 0.956522 |