OPA1
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000361510.8 |
|---|---|
| ClinVar P/LP records | 369 |
| Low-record-burden flag | no |
| Unit rows | 174 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 7.6% | 131 bp |
| Adjacent exon block | 23.8% | 459 bp |
| Downstream-CDS | 98.9% | 3,013 bp |
Why this classification?
- Downstream-CDS record coverage is 98.9% with an estimated payload of 3,013 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 |
|---|---|---|---|---|
| Optic atrophy | 81 | Boundary-CDS payload architecture | 0.308642 | 0.975309 |
| Autosomal dominant optic atrophy classic form | 73 | Boundary-CDS payload architecture | 0.273973 | 0.986301 |
| Optic atrophy with or without deafness, ophthalmoplegia, myopathy, ataxia, and neuropathy | 33 | Boundary-CDS payload architecture | 0.424242 | 0.969697 |