MYBPC3
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000545968.6 |
|---|---|
| ClinVar P/LP records | 1046 |
| Low-record-burden flag | no |
| Unit rows | 198 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 6.1% | 267 bp |
| Adjacent exon block | 21.3% | 820 bp |
| Downstream-CDS | 100.0% | 3,797 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 3,797 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Hypertrophic cardiomyopathy | 717 | Boundary-CDS payload architecture | 0.216179 | 0.986053 |
| Cardiovascular phenotype | 341 | Boundary-CDS payload architecture | 0.234604 | 0.997067 |
| Hypertrophic cardiomyopathy 4 | 277 | Boundary-CDS payload architecture | 0.238267 | 0.996390 |
| Cardiomyopathy | 223 | Boundary-CDS payload architecture | 0.246637 | 0.991031 |
| Primary familial hypertrophic cardiomyopathy | 80 | Boundary-CDS payload architecture | 0.250000 | 1.000000 |
| Left ventricular noncompaction 10 | 68 | Boundary-CDS payload architecture | 0.235294 | 1.000000 |
| MYBPC3-related disorder | 29 | Boundary-CDS payload architecture | 0.310345 | 1.000000 |