IFT140
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000426508.7 |
|---|---|
| ClinVar P/LP records | 231 |
| Low-record-burden flag | no |
| Unit rows | 175 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 6.9% | 222 bp |
| Adjacent exon block | 24.2% | 742 bp |
| Downstream-CDS | 100.0% | 4,386 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 4,386 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 |
|---|---|---|---|---|
| Saldino-Mainzer syndrome | 180 | Boundary-CDS payload architecture | 0.233333 | 0.988889 |
| Retinitis pigmentosa 80 | 112 | Boundary-CDS payload architecture | 0.241071 | 1.000000 |
| Retinal dystrophy | 27 | Boundary-CDS payload architecture | 0.259259 | 1.000000 |
| IFT140-related disorder | 25 | Boundary-CDS payload architecture | 0.320000 | 1.000000 |
| Renal cyst | 22 | Boundary-CDS payload architecture | 0.454545 | 1.000000 |