GUCY2D
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000254854.5 |
|---|---|
| ClinVar P/LP records | 258 |
| Low-record-burden flag | no |
| Unit rows | 108 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 17.4% | 730 bp |
| Adjacent exon block | 37.2% | 780 bp |
| Downstream-CDS | 99.6% | 3,309 bp |
Why this classification?
- Downstream-CDS record coverage is 99.6% with an estimated payload of 3,309 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 |
|---|---|---|---|---|
| Leber congenital amaurosis 1 | 207 | Boundary-CDS payload architecture | 0.381643 | 0.990338 |
| Cone-rod dystrophy 6 | 140 | Boundary-CDS payload architecture | 0.385714 | 0.992857 |
| Retinal dystrophy | 39 | Local compact architecture | 0.564103 | 1.000000 |
| GUCY2D-related recessive retinopathy | 39 | Boundary-CDS payload architecture | 0.410256 | 0.974359 |
| Leber congenital amaurosis | 25 | Local compact architecture | 0.600000 | 1.000000 |
| Night blindness, congenital stationary, type1i | 25 | Boundary-CDS payload architecture | 0.480000 | 1.000000 |
| Choroidal dystrophy, central areolar, 1 | 24 | Local compact architecture | 0.500000 | 1.000000 |