PEX6
Compact local exon/block record cluster
| MANE transcript | ENST00000304611.13 |
|---|---|
| ClinVar P/LP records | 301 |
| Low-record-burden flag | no |
| Unit rows | 91 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 28.6% | 913 bp |
| Adjacent exon block | 51.2% | 1,398 bp |
| Downstream-CDS | 72.4% | 2,058 bp |
Why this classification?
- Local exon/block coverage is 51.2% with an estimated payload of 1,398 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 |
|---|---|---|---|---|
| Peroxisome biogenesis disorder | 176 | Diffuse/moderate architecture | 0.534091 | 0.698864 |
| Heimler syndrome 2 | 129 | Diffuse/moderate architecture | 0.488372 | 0.713178 |
| Peroxisome biogenesis disorder 4A (Zellweger) | 106 | Diffuse/moderate architecture | 0.500000 | 0.735849 |
| Peroxisome biogenesis disorder 4B | 73 | Diffuse/moderate architecture | 0.561644 | 0.630137 |
| Zellweger spectrum disorders | 70 | Diffuse/moderate architecture | 0.457143 | 0.685714 |