DYRK1A
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000647188.2 |
|---|---|
| ClinVar P/LP records | 258 |
| Low-record-burden flag | no |
| Unit rows | 61 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 20.9% | 287 bp |
| Adjacent exon block | 68.6% | 1,030 bp |
| Downstream-CDS | 100.0% | 2,262 bp |
Why this classification?
- Downstream-CDS record coverage is 100.0% with an estimated payload of 2,262 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 |
|---|---|---|---|---|
| DYRK1A-related intellectual disability syndrome | 168 | Boundary-CDS payload architecture | 0.684524 | 1.000000 |
| Intellectual disability | 28 | Boundary-CDS payload architecture | 0.785714 | 1.000000 |
| Inborn genetic diseases | 26 | Boundary-CDS payload architecture | 0.730769 | 1.000000 |