ARID1B
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000636930.2 |
|---|---|
| ClinVar P/LP records | 566 |
| Low-record-burden flag | no |
| Unit rows | 109 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 25.3% | 4,613 bp |
| Adjacent exon block | 46.8% | 5,776 bp |
| Downstream-CDS | 87.3% | 5,325 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Coffin-Siris syndrome 1 | 286 | Boundary-CDS payload architecture | 0.493007 | 0.891608 |
| Inborn genetic diseases | 61 | Boundary-CDS payload architecture | 0.540984 | 0.868852 |
| ARID1B-related BAFopathy | 46 | Boundary-CDS payload architecture | 0.413043 | 0.934783 |