CC2D2A
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000424120.6 |
|---|---|
| ClinVar P/LP records | 328 |
| Low-record-burden flag | no |
| Unit rows | 211 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 6.7% | 178 bp |
| Adjacent exon block | 18.6% | 687 bp |
| Downstream-CDS | 100.0% | 4,860 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 4,860 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 |
|---|---|---|---|---|
| Meckel-Gruber syndrome | 234 | Boundary-CDS payload architecture | 0.213675 | 0.995726 |
| Joubert syndrome | 233 | Boundary-CDS payload architecture | 0.210300 | 0.995708 |
| Joubert syndrome 9 | 115 | Boundary-CDS payload architecture | 0.191304 | 1.000000 |
| Meckel syndrome, type 6 | 110 | Boundary-CDS payload architecture | 0.190909 | 1.000000 |
| Retinitis pigmentosa 93 | 82 | Boundary-CDS payload architecture | 0.195122 | 1.000000 |
| COACH syndrome 2 | 81 | Boundary-CDS payload architecture | 0.197531 | 1.000000 |
| CC2D2A-related disorder | 24 | Boundary-CDS payload architecture | 0.291667 | 1.000000 |