ALMS1
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000613296.6 |
|---|---|
| ClinVar P/LP records | 999 |
| Low-record-burden flag | no |
| Unit rows | 127 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 45.1% | 6,108 bp |
| Adjacent exon block | 61.8% | 8,475 bp |
| Downstream-CDS | 96.3% | 12,180 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Alstrom syndrome | 921 | Boundary-CDS payload architecture | 0.611292 | 0.953312 |
| Cardiovascular phenotype | 85 | Boundary-CDS payload architecture | 0.564706 | 0.964706 |
| Retinal dystrophy | 35 | Boundary-CDS payload architecture | 0.600000 | 1.000000 |