F8
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000360256.9 |
|---|---|
| ClinVar P/LP records | 641 |
| Low-record-burden flag | no |
| Unit rows | 145 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 15.8% | 3,106 bp |
| Adjacent exon block | 31.5% | 3,885 bp |
| Downstream-CDS | 98.3% | 6,910 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 |
|---|---|---|---|---|
| Hereditary factor VIII deficiency disease | 505 | Boundary-CDS payload architecture | 0.300990 | 0.970297 |
| Hereditary factor IX deficiency disease | 51 | Boundary-CDS payload architecture | 0.372549 | 0.960784 |
| Thrombophilia, X-linked, due to factor 8 defect | 27 | Boundary-CDS payload architecture | 0.518519 | 1.000000 |
| F8-related disorder | 24 | Boundary-CDS payload architecture | 0.375000 | 1.000000 |