GCK
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000403799.8 |
|---|---|
| ClinVar P/LP records | 655 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 21.4% | 234 bp |
| Adjacent exon block | 66.1% | 1,680 bp |
| Downstream-CDS | 99.5% | 1,350 bp |
Why this classification?
- Downstream-CDS record coverage is 99.5% with an estimated payload of 1,350 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 |
|---|---|---|---|---|
| Monogenic diabetes | 374 | Boundary-CDS payload architecture | 0.713904 | 0.994652 |
| Maturity-onset diabetes of the young type 2 | 224 | Boundary-CDS payload architecture | 0.656250 | 0.991071 |
| Maturity-onset diabetes of the young | 190 | Local compact architecture | 0.652632 | 0.994737 |
| Hyperinsulinism due to glucokinase deficiency | 39 | Boundary-CDS payload architecture | 0.692308 | 1.000000 |
| Type 2 diabetes mellitus | 35 | Boundary-CDS payload architecture | 0.685714 | 1.000000 |
| GCK-related disorder | 31 | Local compact architecture | 0.612903 | 0.967742 |
| Permanent neonatal diabetes mellitus 1 | 31 | Boundary-CDS payload architecture | 0.677419 | 1.000000 |