CFTR
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000003084.11 |
|---|---|
| ClinVar P/LP records | 1471 |
| Low-record-burden flag | no |
| Unit rows | 151 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.0% | 724 bp |
| Adjacent exon block | 28.8% | 1,281 bp |
| Downstream-CDS | 98.1% | 4,387 bp |
Why this classification?
- Downstream-CDS record coverage is 98.1% with an estimated payload of 4,387 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 |
|---|---|---|---|---|
| Cystic fibrosis | 1,288 | Boundary-CDS payload architecture | 0.290373 | 0.951087 |
| CFTR-related disorder | 806 | Boundary-CDS payload architecture | 0.284119 | 0.970223 |
| Bronchiectasis with or without elevated sweat chloride 1 | 430 | Boundary-CDS payload architecture | 0.281395 | 0.972093 |
| Congenital bilateral aplasia of vas deferens from CFTR mutation | 263 | Boundary-CDS payload architecture | 0.319392 | 0.980989 |
| Hereditary pancreatitis | 216 | Boundary-CDS payload architecture | 0.333333 | 0.981481 |
| Cystic fibrosis diagnostic test | 23 | Boundary-CDS payload architecture | 0.434783 | 1.000000 |
| ivacaftor response - Efficacy | 20 | Boundary-CDS payload architecture | 0.400000 | 1.000000 |