FBN1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000316623.10 |
|---|---|
| ClinVar P/LP records | 3554 |
| Low-record-burden flag | no |
| Unit rows | 385 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 2.8% | 232 bp |
| Adjacent exon block | 9.6% | 3,723 bp |
| Downstream-CDS | 100.0% | 8,613 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 8,613 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Marfan syndrome | 2,904 | Boundary-CDS payload architecture | 0.098485 | 0.998623 |
| Familial thoracic aortic aneurysm and aortic dissection | 2,364 | Boundary-CDS payload architecture | 0.102792 | 0.999154 |
| Marfan Syndrome/Loeys-Dietz Syndrome/Familial Thoracic Aortic Aneurysms and Dissections | 173 | Boundary-CDS payload architecture | 0.132948 | 1.000000 |
| Progeroid and marfanoid aspect-lipodystrophy syndrome | 65 | Boundary-CDS payload architecture | 0.138462 | 1.000000 |
| Acromicric dysplasia | 61 | Boundary-CDS payload architecture | 0.196721 | 1.000000 |
| Stiff skin syndrome | 58 | Boundary-CDS payload architecture | 0.189655 | 1.000000 |
| Ectopia lentis 1, isolated, autosomal dominant | 57 | Boundary-CDS payload architecture | 0.175439 | 1.000000 |
| Geleophysic dysplasia 2 | 55 | Boundary-CDS payload architecture | 0.181818 | 1.000000 |