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Compact local exon/block record cluster
| MANE transcript | ENST00000378204.7 |
|---|---|
| ClinVar P/LP records | 516 |
| Low-record-burden flag | no |
| Unit rows | 55 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 41.5% | 1,742 bp |
| Adjacent exon block | 68.4% | 2,197 bp |
| Downstream-CDS | 59.7% | 1,276 bp |
Why this classification?
- Local exon/block coverage is 68.4% with an estimated payload of 2,197 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| Multiple congenital exostosis | 424 | Donor/payload-burden caveat | 0.679245 | 0.580189 |
| Exostoses, multiple, type 1 | 73 | Donor/payload-burden caveat | 0.698630 | 0.561644 |
| Chondrosarcoma | 20 | Diffuse/moderate architecture | 0.550000 | 0.600000 |