ADGRV1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000405460.9 |
|---|---|
| ClinVar P/LP records | 650 |
| Low-record-burden flag | no |
| Unit rows | 529 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.2% | 744 bp |
| Adjacent exon block | 9.8% | 2,047 bp |
| Downstream-CDS | 99.8% | 18,896 bp |
Why this classification?
- Downstream-CDS record coverage is 99.8%, but the estimated downstream payload is 18,896 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 |
|---|---|---|---|---|
| Usher syndrome type 2C | 128 | Boundary-CDS payload architecture | 0.109375 | 0.992188 |
| Febrile seizures, familial, 4 | 61 | Boundary-CDS payload architecture | 0.147541 | 1.000000 |
| Usher syndrome | 38 | Boundary-CDS payload architecture | 0.157895 | 1.000000 |
| Retinal dystrophy | 35 | Boundary-CDS payload architecture | 0.142857 | 1.000000 |
| Rare genetic deafness | 24 | Boundary-CDS payload architecture | 0.208333 | 1.000000 |
| ADGRV1-related disorder | 20 | Boundary-CDS payload architecture | 0.200000 | 1.000000 |