ERCC6
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000355832.10 |
|---|---|
| ClinVar P/LP records | 349 |
| Low-record-burden flag | no |
| Unit rows | 115 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 17.8% | 708 bp |
| Adjacent exon block | 33.2% | 1,274 bp |
| Downstream-CDS | 100.0% | 4,479 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 4,479 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 |
|---|---|---|---|---|
| Cockayne syndrome type 2 | 179 | Boundary-CDS payload architecture | 0.329609 | 0.994413 |
| Cerebrooculofacioskeletal syndrome 1 | 90 | Boundary-CDS payload architecture | 0.366667 | 1.000000 |
| DE SANCTIS-CACCHIONE SYNDROME | 84 | Boundary-CDS payload architecture | 0.380952 | 1.000000 |
| UV-sensitive syndrome 1 | 45 | Boundary-CDS payload architecture | 0.466667 | 1.000000 |
| Premature ovarian failure 11 | 45 | Boundary-CDS payload architecture | 0.466667 | 1.000000 |
| Age related macular degeneration 5 | 44 | Boundary-CDS payload architecture | 0.454545 | 1.000000 |
| Lung cancer | 43 | Boundary-CDS payload architecture | 0.465116 | 1.000000 |