GJB1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000361726.7 |
|---|---|
| ClinVar P/LP records | 256 |
| Low-record-burden flag | no |
| Unit rows | 4 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 98.0% | 1,825 bp |
| Adjacent exon block | 99.2% | 1,937 bp |
| Downstream-CDS | 99.2% | 849 bp |
Why this classification?
- Downstream-CDS record coverage is 99.2% with an estimated payload of 849 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 |
|---|---|---|---|---|
| Charcot-Marie-Tooth Neuropathy X | 174 | Local compact architecture | 0.994253 | 0.982759 |
| Charcot-Marie-Tooth disease X-linked dominant 1 | 119 | Local compact architecture | 0.991597 | 0.966387 |
| Charcot-Marie-Tooth disease | 106 | Local compact architecture | 1.000000 | 0.990566 |
| Inborn genetic diseases | 20 | Local compact architecture | 1.000000 | 1.000000 |