SMN1
Mechanism-complex limitation
| MANE transcript | ENST00000380707.9 |
|---|---|
| ClinVar P/LP records | 79 |
| Low-record-burden flag | no |
| Unit rows | 42 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 22.8% | 201 bp |
| Adjacent exon block | 73.4% | 615 bp |
| Downstream-CDS | 91.1% | 801 bp |
Why this classification?
- The disease mechanism may involve repeat, noncoding, splicing, or other biology not captured by VCF record coverage alone.
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.