GJB2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000382848.5 |
|---|---|
| ClinVar P/LP records | 247 |
| Low-record-burden flag | no |
| Unit rows | 4 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 99.2% | 2,134 bp |
| Adjacent exon block | 100.0% | 2,290 bp |
| Downstream-CDS | 100.0% | 678 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 678 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 |
|---|---|---|---|---|
| Autosomal recessive nonsyndromic hearing loss 1A | 175 | Boundary-CDS payload architecture | 1.000000 | 0.988571 |
| Autosomal dominant nonsyndromic hearing loss 3A | 94 | Boundary-CDS payload architecture | 1.000000 | 0.978723 |
| Palmoplantar keratoderma-deafness syndrome | 80 | Boundary-CDS payload architecture | 1.000000 | 0.975000 |
| Autosomal dominant keratitis-ichthyosis-hearing loss syndrome | 80 | Boundary-CDS payload architecture | 1.000000 | 0.975000 |
| Mutilating keratoderma | 76 | Boundary-CDS payload architecture | 1.000000 | 0.973684 |
| Knuckle pads, deafness AND leukonychia syndrome | 75 | Boundary-CDS payload architecture | 1.000000 | 0.973333 |
| Ichthyosis, hystrix-like, with hearing loss | 75 | Boundary-CDS payload architecture | 1.000000 | 0.973333 |
| Nonsyndromic genetic hearing loss | 64 | Boundary-CDS payload architecture | 0.984375 | 0.968750 |