LMNA
Compact local exon/block record cluster
| MANE transcript | ENST00000368300.9 |
|---|---|
| ClinVar P/LP records | 536 |
| Low-record-burden flag | no |
| Unit rows | 61 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 24.6% | 564 bp |
| Adjacent exon block | 55.2% | 1,144 bp |
| Downstream-CDS | 76.3% | 1,636 bp |
Why this classification?
- Local exon/block coverage is 55.2% with an estimated payload of 1,144 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 |
|---|---|---|---|---|
| Charcot-Marie-Tooth disease type 2 | 354 | Diffuse/moderate architecture | 0.579096 | 0.728814 |
| Cardiovascular phenotype | 96 | Local compact architecture | 0.531250 | 0.854167 |
| Dilated cardiomyopathy 1A | 78 | Boundary-CDS payload architecture | 0.564103 | 0.833333 |
| Emery-Dreifuss muscular dystrophy 2, autosomal dominant | 47 | Local compact architecture | 0.574468 | 0.851064 |
| Primary dilated cardiomyopathy | 47 | Boundary-CDS payload architecture | 0.659574 | 0.914894 |
| Congenital muscular dystrophy due to LMNA mutation | 37 | Local compact architecture | 0.567568 | 0.756757 |
| Hutchinson-Gilford syndrome | 32 | Boundary-CDS payload architecture | 0.437500 | 0.843750 |
| Familial partial lipodystrophy, Dunnigan type | 28 | Local compact architecture | 0.535714 | 0.821429 |