CASR
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000639785.2 |
|---|---|
| ClinVar P/LP records | 313 |
| Low-record-burden flag | no |
| Unit rows | 31 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 38.3% | 7,943 bp |
| Adjacent exon block | 90.7% | 9,490 bp |
| Downstream-CDS | 100.0% | 3,234 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 3,234 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 |
|---|---|---|---|---|
| Autosomal dominant hypocalcemia 1 | 207 | Boundary-CDS payload architecture | 0.903382 | 0.995169 |
| Familial hypocalciuric hypercalcemia | 205 | Boundary-CDS payload architecture | 0.897561 | 1.000000 |
| Familial hypocalciuric hypercalcemia 1 | 69 | Boundary-CDS payload architecture | 0.869565 | 1.000000 |
| Neonatal severe primary hyperparathyroidism | 43 | Boundary-CDS payload architecture | 0.930233 | 1.000000 |
| Nephrolithiasis/nephrocalcinosis | 29 | Boundary-CDS payload architecture | 0.827586 | 1.000000 |
| Epilepsy, idiopathic generalized, susceptibility to, 8 | 28 | Boundary-CDS payload architecture | 0.892857 | 1.000000 |