DNAH5
Large-payload / donor/payload-burden caveat
| MANE transcript | ENST00000265104.5 |
|---|---|
| ClinVar P/LP records | 1093 |
| Low-record-burden flag | no |
| Unit rows | 463 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 2.3% | 157 bp |
| Adjacent exon block | 9.6% | 947 bp |
| Downstream-CDS | 99.8% | 13,815 bp |
Why this classification?
- Downstream-CDS record coverage is 99.8%, but the estimated downstream payload is 13,815 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 |
|---|---|---|---|---|
| Primary ciliary dyskinesia | 823 | Boundary-CDS payload architecture | 0.099635 | 0.992710 |
| Primary ciliary dyskinesia 3 | 407 | Boundary-CDS payload architecture | 0.100737 | 0.992629 |
| DNAH5-related disorder | 27 | Boundary-CDS payload architecture | 0.148148 | 0.962963 |