ABCC8
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000389817.8 |
|---|---|
| ClinVar P/LP records | 476 |
| Low-record-burden flag | no |
| Unit rows | 223 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 7.6% | 243 bp |
| Adjacent exon block | 21.4% | 891 bp |
| Downstream-CDS | 94.5% | 4,595 bp |
Why this classification?
- Downstream-CDS record coverage is 94.5% with an estimated payload of 4,595 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 |
|---|---|---|---|---|
| Hyperinsulinemic hypoglycemia, familial, 1 | 206 | Boundary-CDS payload architecture | 0.194175 | 0.941748 |
| Type 2 diabetes mellitus | 178 | Boundary-CDS payload architecture | 0.207865 | 0.949438 |
| Hereditary hyperinsulinism | 110 | Boundary-CDS payload architecture | 0.200000 | 0.954545 |
| Diabetes mellitus, permanent neonatal 3 | 96 | Boundary-CDS payload architecture | 0.239583 | 0.947917 |
| Diabetes mellitus, transient neonatal, 2 | 92 | Boundary-CDS payload architecture | 0.217391 | 0.945652 |
| Leucine-induced hypoglycemia | 90 | Boundary-CDS payload architecture | 0.222222 | 0.944444 |
| Familial hyperinsulinism | 56 | Boundary-CDS payload architecture | 0.267857 | 0.928571 |
| Neonatal diabetes mellitus | 26 | Boundary-CDS payload architecture | 0.230769 | 0.961538 |