SLC22A5
Compact local exon/block record cluster
| MANE transcript | ENST00000245407.8 |
|---|---|
| ClinVar P/LP records | 285 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 27.4% | 656 bp |
| Adjacent exon block | 66.3% | 1,214 bp |
| Downstream-CDS | 73.3% | 1,278 bp |
Why this classification?
- Local exon/block coverage is 66.3% with an estimated payload of 1,214 bp.
- This label means record burden clusters in a local transcript interval.
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 |
|---|---|---|---|---|
| Renal carnitine transport defect | 274 | Diffuse/moderate architecture | 0.667883 | 0.722628 |
| Carnitine deficiency | 72 | Diffuse/moderate architecture | 0.666667 | 0.777778 |