RPGRIP1L
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000647211.2 |
|---|---|
| ClinVar P/LP records | 336 |
| Low-record-burden flag | no |
| Unit rows | 151 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.2% | 453 bp |
| Adjacent exon block | 35.1% | 1,282 bp |
| Downstream-CDS | 100.0% | 3,945 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 3,945 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 |
|---|---|---|---|---|
| Joubert syndrome | 289 | Boundary-CDS payload architecture | 0.352941 | 0.993080 |
| Meckel-Gruber syndrome | 243 | Boundary-CDS payload architecture | 0.353909 | 0.991770 |
| Joubert syndrome 7 | 109 | Boundary-CDS payload architecture | 0.431193 | 1.000000 |
| Meckel syndrome, type 5 | 95 | Boundary-CDS payload architecture | 0.410526 | 1.000000 |
| COACH syndrome 3 | 91 | Boundary-CDS payload architecture | 0.428571 | 1.000000 |
| RPGRIP1L-related disorder | 30 | Boundary-CDS payload architecture | 0.433333 | 1.000000 |