TTN
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000589042.5 |
|---|---|
| ClinVar P/LP records | 5807 |
| Low-record-burden flag | no |
| Unit rows | 2167 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.5% | 17,106 bp |
| Adjacent exon block | 23.4% | 18,882 bp |
| Downstream-CDS | 100.0% | 107,973 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 107,973 bp (>50 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 |
|---|---|---|---|---|
| Dilated cardiomyopathy 1G | 4,510 | Boundary-CDS payload with large-payload burden | 0.227716 | 0.996009 |
| Autosomal recessive limb-girdle muscular dystrophy type 2J | 4,105 | Boundary-CDS payload with large-payload burden | 0.223630 | 0.995859 |
| Cardiovascular phenotype | 1,167 | Boundary-CDS payload with large-payload burden | 0.272494 | 0.998286 |
| Primary dilated cardiomyopathy | 209 | Boundary-CDS payload with large-payload burden | 0.267943 | 1.000000 |
| Primary dilated cardiomyopathy | 201 | Boundary-CDS payload with large-payload burden | 0.328358 | 1.000000 |
| Early-onset myopathy with fatal cardiomyopathy | 192 | Boundary-CDS payload with large-payload burden | 0.203125 | 1.000000 |
| Tibial muscular dystrophy | 163 | Boundary-CDS payload with large-payload burden | 0.245399 | 0.993865 |
| Hypertrophic cardiomyopathy 9 | 163 | Boundary-CDS payload with large-payload burden | 0.263804 | 1.000000 |