DYNC2H1
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000375735.7 |
|---|---|
| ClinVar P/LP records | 566 |
| Low-record-burden flag | no |
| Unit rows | 523 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 3.2% | 265 bp |
| Adjacent exon block | 10.2% | 1,019 bp |
| Downstream-CDS | 99.6% | 12,726 bp |
Why this classification?
- Downstream-CDS record coverage is 99.6%, but the estimated downstream payload is 12,726 bp (5–20 kb).
- This label emphasizes payload or evidence burden rather than compact architecture.
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 |
|---|---|---|---|---|
| Jeune thoracic dystrophy | 385 | Boundary-CDS payload architecture | 0.101299 | 0.992208 |
| Asphyxiating thoracic dystrophy 3 | 264 | Boundary-CDS payload architecture | 0.113636 | 0.988636 |
| DYNC2H1-related disorder | 20 | Boundary-CDS payload architecture | 0.200000 | 1.000000 |