LDLR
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000558518.6 |
|---|---|
| ClinVar P/LP records | 1933 |
| Low-record-burden flag | no |
| Unit rows | 97 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 22.1% | 381 bp |
| Adjacent exon block | 42.8% | 873 bp |
| Downstream-CDS | 97.6% | 2,513 bp |
Why this classification?
- Downstream-CDS record coverage is 97.6% with an estimated payload of 2,513 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 |
|---|---|---|---|---|
| Hypercholesterolemia, familial, 1 | 1,532 | Boundary-CDS payload architecture | 0.434726 | 0.964752 |
| Familial hypercholesterolemia | 979 | Boundary-CDS payload architecture | 0.436159 | 0.973442 |
| Cardiovascular phenotype | 496 | Boundary-CDS payload architecture | 0.451613 | 0.971774 |
| Homozygous familial hypercholesterolemia | 112 | Boundary-CDS payload architecture | 0.517857 | 0.964286 |
| Dyslipidemia | 72 | Boundary-CDS payload architecture | 0.541667 | 1.000000 |
| LDLR-related disorder | 41 | Boundary-CDS payload architecture | 0.463415 | 1.000000 |
| Hypercholesterolemia | 22 | Boundary-CDS payload architecture | 0.590909 | 0.954545 |