CPT2
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000371486.4 |
|---|---|
| ClinVar P/LP records | 225 |
| Low-record-burden flag | no |
| Unit rows | 19 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 63.6% | 1,305 bp |
| Adjacent exon block | 100.0% | 2,699 bp |
| Downstream-CDS | 89.8% | 1,822 bp |
Why this classification?
- Downstream-CDS record coverage is 89.8% with an estimated payload of 1,822 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 |
|---|---|---|---|---|
| Carnitine palmitoyltransferase II deficiency | 170 | Boundary-CDS payload architecture | 0.988235 | 0.894118 |
| Carnitine palmitoyl transferase II deficiency, severe infantile form | 90 | Boundary-CDS payload architecture | 1.000000 | 0.844444 |
| Encephalopathy, acute, infection-induced, susceptibility to, 4 | 80 | Boundary-CDS payload architecture | 1.000000 | 0.900000 |
| Carnitine palmitoyl transferase II deficiency, neonatal form | 63 | Boundary-CDS payload architecture | 1.000000 | 0.841270 |
| Carnitine palmitoyl transferase II deficiency, myopathic form | 61 | Boundary-CDS payload architecture | 1.000000 | 0.836066 |