CACNA1A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000360228.11 |
|---|---|
| ClinVar P/LP records | 554 |
| Low-record-burden flag | no |
| Unit rows | 271 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 12.5% | 810 bp |
| Adjacent exon block | 22.9% | 1,567 bp |
| Downstream-CDS | 96.9% | 7,225 bp |
Why this classification?
- Downstream coverage is high, but boundary, splice, dosage, or context assumptions dominate interpretation.
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 |
|---|---|---|---|---|
| Episodic ataxia type 2 | 319 | Boundary-CDS payload architecture | 0.210031 | 0.949843 |
| Developmental and epileptic encephalopathy, 42 | 307 | Boundary-CDS payload architecture | 0.218241 | 0.960912 |
| Spinocerebellar ataxia type 6 | 62 | Boundary-CDS payload architecture | 0.241935 | 1.000000 |
| Migraine, familial hemiplegic, 1 | 59 | Boundary-CDS payload architecture | 0.254237 | 0.983051 |
| Inborn genetic diseases | 43 | Boundary-CDS payload architecture | 0.302326 | 1.000000 |
| Developmental and epileptic encephalopathy, 52 | 30 | Boundary-CDS payload architecture | 0.266667 | 1.000000 |
| CACNA1A-related disorder | 29 | Boundary-CDS payload architecture | 0.275862 | 1.000000 |