ATP7A
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000341514.11 |
|---|---|
| ClinVar P/LP records | 254 |
| Low-record-burden flag | no |
| Unit rows | 127 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 10.6% | 726 bp |
| Adjacent exon block | 31.1% | 1,749 bp |
| Downstream-CDS | 100.0% | 4,500 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 4,500 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 |
|---|---|---|---|---|
| Menkes kinky-hair syndrome | 223 | Boundary-CDS payload architecture | 0.327354 | 1.000000 |
| X-linked distal spinal muscular atrophy type 3 | 129 | Boundary-CDS payload architecture | 0.449612 | 1.000000 |
| Cutis laxa, X-linked | 127 | Boundary-CDS payload architecture | 0.440945 | 1.000000 |