SLC2A1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000426263.10 |
|---|---|
| ClinVar P/LP records | 338 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.1% | 241 bp |
| Adjacent exon block | 62.1% | 858 bp |
| Downstream-CDS | 97.9% | 1,458 bp |
Why this classification?
- Downstream-CDS record coverage is 97.9% with an estimated payload of 1,458 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 |
|---|---|---|---|---|
| GLUT1 deficiency syndrome 1, autosomal recessive | 167 | Local compact architecture | 0.658683 | 0.970060 |
| Encephalopathy due to GLUT1 deficiency | 113 | Local compact architecture | 0.663717 | 0.964602 |
| Childhood onset GLUT1 deficiency syndrome 2 | 41 | Local compact architecture | 0.707317 | 0.975610 |
| Dystonia 9 | 28 | Boundary-CDS payload architecture | 0.571429 | 0.964286 |
| Inborn genetic diseases | 23 | Local compact architecture | 0.608696 | 0.956522 |