SPTB
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000644917.1 |
|---|---|
| ClinVar P/LP records | 557 |
| Low-record-burden flag | no |
| Unit rows | 205 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.0% | 871 bp |
| Adjacent exon block | 32.5% | 2,220 bp |
| Downstream-CDS | 100.0% | 6,984 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 |
|---|---|---|---|---|
| Hereditary spherocytosis type 2 | 101 | Boundary-CDS payload architecture | 0.356436 | 1.000000 |
| SPTB-related disorder | 25 | Boundary-CDS payload architecture | 0.400000 | 1.000000 |