LZTR1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000646124.2 |
|---|---|
| ClinVar P/LP records | 798 |
| Low-record-burden flag | no |
| Unit rows | 115 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 7.9% | 202 bp |
| Adjacent exon block | 29.3% | 593 bp |
| Downstream-CDS | 93.9% | 2,320 bp |
Why this classification?
- Downstream-CDS record coverage is 93.9% with an estimated payload of 2,320 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 |
|---|---|---|---|---|
| Hereditary cancer-predisposing syndrome | 480 | Boundary-CDS payload architecture | 0.300000 | 0.927083 |
| Cardiovascular phenotype | 480 | Boundary-CDS payload architecture | 0.300000 | 0.927083 |
| LZTR1-related schwannomatosis | 140 | Boundary-CDS payload architecture | 0.328571 | 0.928571 |
| Noonan syndrome 2 | 62 | Boundary-CDS payload architecture | 0.322581 | 0.903226 |
| Noonan syndrome 10 | 46 | Boundary-CDS payload architecture | 0.413043 | 0.934783 |
| LZTR1-related disorder | 26 | Local compact architecture | 0.500000 | 1.000000 |
| Schwannomatosis | 23 | Boundary-CDS payload architecture | 0.391304 | 0.956522 |