GBA1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000368373.8 |
|---|---|
| ClinVar P/LP records | 360 |
| Low-record-burden flag | no |
| Unit rows | 55 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 17.8% | 225 bp |
| Adjacent exon block | 70.0% | 934 bp |
| Downstream-CDS | 99.2% | 1,581 bp |
Why this classification?
- Downstream-CDS record coverage is 99.2% with an estimated payload of 1,581 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 |
|---|---|---|---|---|
| Gaucher disease | 302 | Local compact architecture | 0.715232 | 0.993377 |
| Gaucher disease type I | 89 | Local compact architecture | 0.685393 | 0.977528 |
| Gaucher disease type II | 44 | Local compact architecture | 0.750000 | 0.977273 |
| Gaucher disease type III | 41 | Local compact architecture | 0.756098 | 0.975610 |
| Gaucher disease perinatal lethal | 39 | Local compact architecture | 0.769231 | 0.974359 |
| Parkinson disease, late-onset | 38 | Local compact architecture | 0.789474 | 0.973684 |
| Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome | 38 | Local compact architecture | 0.763158 | 0.973684 |
| Lewy body dementia | 30 | Local compact architecture | 0.766667 | 0.966667 |