CDH23
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000224721.12 |
|---|---|
| ClinVar P/LP records | 725 |
| Low-record-burden flag | no |
| Unit rows | 409 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 7.2% | 459 bp |
| Adjacent exon block | 15.3% | 1,175 bp |
| Downstream-CDS | 100.0% | 10,062 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0%, but the estimated downstream payload is 10,062 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Pituitary adenoma 5, multiple types | 242 | Boundary-CDS payload architecture | 0.173554 | 1.000000 |
| Autosomal recessive nonsyndromic hearing loss 12 | 174 | Boundary-CDS payload architecture | 0.189655 | 1.000000 |
| Usher syndrome type 1 | 129 | Boundary-CDS payload architecture | 0.232558 | 1.000000 |
| Usher syndrome type 1D | 113 | Boundary-CDS payload architecture | 0.176991 | 1.000000 |
| Usher syndrome | 38 | Boundary-CDS payload architecture | 0.184211 | 1.000000 |
| Rare genetic deafness | 36 | Boundary-CDS payload architecture | 0.222222 | 1.000000 |
| Retinal dystrophy | 33 | Boundary-CDS payload architecture | 0.272727 | 1.000000 |