APOB
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000233242.5 |
|---|---|
| ClinVar P/LP records | 248 |
| Low-record-burden flag | no |
| Unit rows | 163 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 54.4% | 7,572 bp |
| Adjacent exon block | 66.9% | 10,151 bp |
| Downstream-CDS | 98.4% | 13,607 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 |
|---|---|---|---|---|
| Hypercholesterolemia, autosomal dominant, type B | 177 | Boundary-CDS payload architecture | 0.745763 | 0.983051 |
| Familial hypobetalipoproteinemia 1 | 169 | Boundary-CDS payload architecture | 0.721893 | 0.982249 |
| Hypercholesterolemia, familial, 1 | 21 | Boundary-CDS payload architecture | 0.666667 | 0.857143 |