PRPH2
Compact local exon/block record cluster
| MANE transcript | ENST00000230381.7 |
|---|---|
| ClinVar P/LP records | 361 |
| Low-record-burden flag | no |
| Unit rows | 8 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 46.8% | 247 bp |
| Adjacent exon block | 100.0% | 3,001 bp |
| Downstream-CDS | 57.6% | 457 bp |
Why this classification?
- Local exon/block coverage is 100.0% with an estimated payload of 3,001 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| PRPH2-related disorder | 240 | Donor/payload-burden caveat | 0.995833 | 0.575000 |
| Retinal dystrophy | 106 | Donor/payload-burden caveat | 1.000000 | 0.566038 |
| Retinitis pigmentosa | 34 | Donor/payload-burden caveat | 1.000000 | 0.558824 |
| Patterned macular dystrophy 1 | 31 | Donor/payload-burden caveat | 1.000000 | 0.580645 |
| Stargardt disease | 28 | Diffuse/moderate architecture | 1.000000 | 0.428571 |
| Retinitis pigmentosa 7 | 25 | Donor/payload-burden caveat | 1.000000 | 0.480000 |
| Patterned dystrophy of the retinal pigment epithelium | 25 | Donor/payload-burden caveat | 1.000000 | 0.640000 |