CDKL5
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000623535.2 |
|---|---|
| ClinVar P/LP records | 806 |
| Low-record-burden flag | no |
| Unit rows | 97 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 16.6% | 967 bp |
| Adjacent exon block | 35.1% | 1,481 bp |
| Downstream-CDS | 100.0% | 2,880 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 2,880 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 |
|---|---|---|---|---|
| Developmental and epileptic encephalopathy, 2 | 378 | Boundary-CDS payload architecture | 0.465608 | 0.989418 |
| Angelman syndrome-like | 207 | Boundary-CDS payload architecture | 0.483092 | 1.000000 |
| CDKL5 disorder | 190 | Boundary-CDS payload architecture | 0.473684 | 0.994737 |
| Juvenile retinoschisis | 96 | Boundary-CDS payload architecture | — | 1.000000 |
| Retinal dystrophy | 77 | Boundary-CDS payload architecture | — | 1.000000 |
| Atypical Rett syndrome | 40 | Boundary-CDS payload architecture | 0.525000 | 1.000000 |