RECQL4
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000617875.6 |
|---|---|
| ClinVar P/LP records | 385 |
| Low-record-burden flag | no |
| Unit rows | 115 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 19.0% | 777 bp |
| Adjacent exon block | 33.2% | 1,266 bp |
| Downstream-CDS | 97.1% | 3,540 bp |
Why this classification?
- Downstream-CDS record coverage is 97.1% with an estimated payload of 3,540 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 |
|---|---|---|---|---|
| Baller-Gerold syndrome | 363 | Boundary-CDS payload architecture | 0.338843 | 0.964187 |
| Rothmund-Thomson syndrome type 2 | 26 | Boundary-CDS payload architecture | 0.423077 | 1.000000 |
| Rapadilino syndrome | 24 | Boundary-CDS payload architecture | 0.416667 | 1.000000 |