NF1
Tumor-predisposition control/caution
| MANE transcript | ENST00000358273.9 |
|---|---|
| ClinVar P/LP records | 5381 |
| Low-record-burden flag | no |
| Unit rows | 337 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.3% | 433 bp |
| Adjacent exon block | 15.4% | 1,282 bp |
| Downstream-CDS | 99.3% | 8,457 bp |
Why this classification?
- This gene is retained as a control/caution class because high ClinVar burden should not be read as replacement suitability.
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 |
|---|---|---|---|---|
| Neurofibromatosis, type 1 | 4,600 | Tumor-predisposition control context | 0.155217 | 0.980870 |
| Hereditary cancer-predisposing syndrome | 1,362 | Tumor-predisposition control context | 0.139501 | 0.986784 |
| Cardiovascular phenotype | 1,236 | Tumor-predisposition control context | 0.143204 | 0.987864 |
| Juvenile myelomonocytic leukemia | 244 | Tumor-predisposition control context | 0.180328 | 0.983607 |
| Neurofibromatosis-Noonan syndrome | 144 | Tumor-predisposition control context | 0.222222 | 0.965278 |
| Café-au-lait macules with pulmonary stenosis | 137 | Tumor-predisposition control context | 0.226277 | 0.956204 |
| Neurofibromatosis, familial spinal | 117 | Tumor-predisposition control context | 0.230769 | 0.965812 |
| NF1-related disorder | 93 | Tumor-predisposition control context | 0.182796 | 0.989247 |