SYNGAP1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000646630.1 |
|---|---|
| ClinVar P/LP records | 433 |
| Low-record-burden flag | no |
| Unit rows | 103 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 24.2% | 1,072 bp |
| Adjacent exon block | 41.3% | 1,732 bp |
| Downstream-CDS | 99.1% | 3,962 bp |
Why this classification?
- Downstream-CDS record coverage is 99.1% with an estimated payload of 3,962 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 |
|---|---|---|---|---|
| Intellectual disability, autosomal dominant 5 | 320 | Boundary-CDS payload architecture | 0.428125 | 0.990625 |
| Inborn genetic diseases | 45 | Boundary-CDS payload architecture | 0.422222 | 0.955556 |