ABCD1
Compact local exon/block record cluster
| MANE transcript | ENST00000218104.6 |
|---|---|
| ClinVar P/LP records | 512 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 41.6% | 1,311 bp |
| Adjacent exon block | 63.9% | 1,899 bp |
| Downstream-CDS | 59.4% | 1,335 bp |
Why this classification?
- Local exon/block coverage is 63.9% with an estimated payload of 1,899 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 |
|---|---|---|---|---|
| Adrenoleukodystrophy | 444 | Diffuse/moderate architecture | 0.632883 | 0.590090 |
| ABCD1-related disorder | 26 | Diffuse/moderate architecture | 0.730769 | 0.500000 |
| Inborn genetic diseases | 20 | Diffuse/moderate architecture | 0.600000 | 0.550000 |