ABCA4
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000370225.4 |
|---|---|
| ClinVar P/LP records | 1464 |
| Low-record-burden flag | no |
| Unit rows | 289 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.4% | 177 bp |
| Adjacent exon block | 14.9% | 1,033 bp |
| Downstream-CDS | 98.7% | 6,753 bp |
Why this classification?
- Downstream-CDS record coverage is 98.7%, but the estimated downstream payload is 6,753 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Retinal dystrophy | 456 | Boundary-CDS payload architecture | 0.146930 | 0.986842 |
| Severe early-childhood-onset retinal dystrophy | 406 | Boundary-CDS payload architecture | 0.157635 | 0.982759 |
| Retinitis pigmentosa 19 | 173 | Boundary-CDS payload architecture | 0.208092 | 0.994220 |
| Cone-rod dystrophy 3 | 173 | Boundary-CDS payload architecture | 0.184971 | 0.994220 |
| Age related macular degeneration 2 | 151 | Boundary-CDS payload architecture | 0.165563 | 0.993377 |
| Stargardt disease | 122 | Boundary-CDS payload architecture | 0.180328 | 0.967213 |
| Retinitis pigmentosa | 86 | Boundary-CDS payload architecture | 0.162791 | 0.976744 |
| ABCA4-related disorder | 75 | Boundary-CDS payload architecture | 0.173333 | 0.986667 |