GLB1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000307363.10 |
|---|---|
| ClinVar P/LP records | 322 |
| Low-record-burden flag | no |
| Unit rows | 85 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 11.8% | 255 bp |
| Adjacent exon block | 40.1% | 658 bp |
| Downstream-CDS | 97.8% | 1,956 bp |
Why this classification?
- Downstream-CDS record coverage is 97.8% with an estimated payload of 1,956 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 |
|---|---|---|---|---|
| Mucopolysaccharidosis, MPS-IV-B | 272 | Boundary-CDS payload architecture | 0.411765 | 0.959559 |
| GM1 gangliosidosis | 230 | Boundary-CDS payload architecture | 0.391304 | 0.969565 |
| Infantile GM1 gangliosidosis | 158 | Boundary-CDS payload architecture | 0.468354 | 0.962025 |
| GM1 gangliosidosis type 2 | 128 | Boundary-CDS payload architecture | 0.445312 | 0.968750 |
| GM1 gangliosidosis type 3 | 126 | Boundary-CDS payload architecture | 0.452381 | 0.968254 |
| GLB1-related disorder | 22 | Boundary-CDS payload architecture | 0.454545 | 0.954545 |