IDUA
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000514224.2 |
|---|---|
| ClinVar P/LP records | 419 |
| Low-record-burden flag | no |
| Unit rows | 73 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 11.7% | 203 bp |
| Adjacent exon block | 49.2% | 909 bp |
| Downstream-CDS | 92.4% | 1,801 bp |
Why this classification?
- Downstream-CDS record coverage is 92.4% with an estimated payload of 1,801 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 type 1 | 334 | Local compact architecture | 0.508982 | 0.919162 |
| Hurler syndrome | 160 | Boundary-CDS payload architecture | 0.443750 | 0.925000 |
| Mucopolysaccharidosis, MPS-I-H/S | 95 | Local compact architecture | 0.526316 | 0.905263 |
| Mucopolysaccharidosis, MPS-I-S | 64 | Local compact architecture | 0.515625 | 0.875000 |