SYNE1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000367255.10 |
|---|---|
| ClinVar P/LP records | 379 |
| Low-record-burden flag | no |
| Unit rows | 865 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 8.2% | 2,161 bp |
| Adjacent exon block | 11.1% | 3,123 bp |
| Downstream-CDS | 100.0% | 26,324 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 26,324 bp (>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 |
|---|---|---|---|---|
| Autosomal recessive ataxia, Beauce type | 235 | Boundary-CDS payload with large-payload burden | 0.097872 | 0.995745 |
| Emery-Dreifuss muscular dystrophy 4, autosomal dominant | 165 | Boundary-CDS payload with large-payload burden | 0.084848 | 0.993939 |
| Arthrogryposis multiplex congenita 3, myogenic type | 22 | Boundary-CDS payload with large-payload burden | 0.181818 | 1.000000 |