FRAS1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000512123.4 |
|---|---|
| ClinVar P/LP records | 315 |
| Low-record-burden flag | no |
| Unit rows | 433 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 3.8% | 160 bp |
| Adjacent exon block | 10.5% | 934 bp |
| Downstream-CDS | 99.7% | 11,960 bp |
Why this classification?
- Downstream-CDS record coverage is 99.7%, but the estimated downstream payload is 11,960 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 |
|---|---|---|---|---|
| Fraser syndrome 1 | 160 | Boundary-CDS payload architecture | 0.118750 | 0.993750 |