NAGLU
Compact local exon/block record cluster
| MANE transcript | ENST00000225927.7 |
|---|---|
| ClinVar P/LP records | 295 |
| Low-record-burden flag | no |
| Unit rows | 25 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 40.7% | 1,422 bp |
| Adjacent exon block | 77.3% | 2,060 bp |
| Downstream-CDS | 78.0% | 1,846 bp |
Why this classification?
- Local exon/block coverage is 77.3% with an estimated payload of 2,060 bp.
- This label means record burden clusters in a local transcript interval.
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-III-B | 278 | Diffuse/moderate architecture | 0.766187 | 0.766187 |
| Charcot-Marie-Tooth disease axonal type 2V | 226 | Diffuse/moderate architecture | 0.774336 | 0.774336 |