NBAS
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000281513.10 |
|---|---|
| ClinVar P/LP records | 245 |
| Low-record-burden flag | no |
| Unit rows | 301 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 6.5% | 194 bp |
| Adjacent exon block | 16.7% | 871 bp |
| Downstream-CDS | 97.6% | 6,996 bp |
Why this classification?
- Downstream-CDS record coverage is 97.6%, but the estimated downstream payload is 6,996 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Infantile liver failure syndrome 2 | 62 | Boundary-CDS payload architecture | 0.193548 | 0.951613 |
| Short stature-optic atrophy-Pelger-Huët anomaly syndrome | 47 | Boundary-CDS payload architecture | 0.170213 | 0.936170 |
| Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins | 23 | Boundary-CDS payload architecture | 0.217391 | 0.956522 |