SLC26A2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000286298.5 |
|---|---|
| ClinVar P/LP records | 234 |
| Low-record-burden flag | no |
| Unit rows | 8 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 66.2% | 7,108 bp |
| Adjacent exon block | 100.0% | 8,054 bp |
| Downstream-CDS | 100.0% | 2,217 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 2,217 bp (≤5 kb).
- This label is boundary-based: high coverage can occur when many coding records lie downstream of an early transcript boundary.
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 |
|---|---|---|---|---|
| Achondrogenesis, type IB | 205 | Boundary-CDS payload architecture | 0.995122 | 0.985366 |
| Multiple epiphyseal dysplasia type 4 | 173 | Boundary-CDS payload architecture | 0.994220 | 0.982659 |
| Diastrophic dysplasia | 169 | Boundary-CDS payload architecture | 0.994083 | 0.988166 |
| Atelosteogenesis type II | 157 | Boundary-CDS payload architecture | 0.993631 | 0.987261 |