OTOF
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000272371.7 |
|---|---|
| ClinVar P/LP records | 355 |
| Low-record-burden flag | no |
| Unit rows | 270 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 5.6% | 187 bp |
| Adjacent exon block | 15.5% | 710 bp |
| Downstream-CDS | 99.2% | 5,912 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 9 | 159 | Boundary-CDS payload architecture | 0.169811 | 0.993711 |
| Rare genetic deafness | 28 | Boundary-CDS payload architecture | 0.250000 | 1.000000 |
| Nonsyndromic genetic hearing loss | 24 | Boundary-CDS payload architecture | 0.250000 | 0.958333 |
| Auditory neuropathy | 22 | Boundary-CDS payload architecture | 0.318182 | 1.000000 |