POLG
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000268124.11 |
|---|---|
| ClinVar P/LP records | 378 |
| Low-record-burden flag | no |
| Unit rows | 127 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 11.4% | 818 bp |
| Adjacent exon block | 36.0% | 909 bp |
| Downstream-CDS | 100.0% | 3,717 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 3,717 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 |
|---|---|---|---|---|
| Progressive sclerosing poliodystrophy | 322 | Boundary-CDS payload architecture | 0.354037 | 1.000000 |
| Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis | 80 | Boundary-CDS payload architecture | 0.362500 | 1.000000 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1 | 79 | Boundary-CDS payload architecture | 0.354430 | 1.000000 |
| Mitochondrial DNA depletion syndrome 4b | 74 | Boundary-CDS payload architecture | 0.364865 | 1.000000 |
| Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1 | 73 | Boundary-CDS payload architecture | 0.328767 | 1.000000 |
| POLG-related disorder | 40 | Boundary-CDS payload architecture | 0.325000 | 1.000000 |
| Mitochondrial DNA depletion syndrome | 23 | Boundary-CDS payload architecture | 0.391304 | 1.000000 |