RASA1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000274376.11 |
|---|---|
| ClinVar P/LP records | 285 |
| Low-record-burden flag | no |
| Unit rows | 139 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 10.5% | 1,108 bp |
| Adjacent exon block | 28.1% | 669 bp |
| Downstream-CDS | 91.2% | 2,602 bp |
Why this classification?
- Downstream-CDS record coverage is 91.2% with an estimated payload of 2,602 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 |
|---|---|---|---|---|
| Capillary malformation-arteriovenous malformation syndrome | 173 | Boundary-CDS payload architecture | 0.265896 | 0.867052 |
| Capillary malformation-arteriovenous malformation 1 | 69 | Boundary-CDS payload architecture | 0.347826 | 0.927536 |