CHD7
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000423902.7 |
|---|---|
| ClinVar P/LP records | 829 |
| Low-record-burden flag | no |
| Unit rows | 217 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 14.2% | 1,839 bp |
| Adjacent exon block | 24.1% | 2,616 bp |
| Downstream-CDS | 100.0% | 8,991 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 |
|---|---|---|---|---|
| CHARGE syndrome | 570 | Boundary-CDS payload architecture | 0.238596 | 0.994737 |
| Inborn genetic diseases | 46 | Boundary-CDS payload architecture | 0.217391 | 1.000000 |
| CHD7-related disorder | 41 | Boundary-CDS payload architecture | 0.243902 | 1.000000 |
| Hypogonadotropic hypogonadism 5 with or without anosmia | 38 | Boundary-CDS payload architecture | 0.263158 | 1.000000 |
| CHD7-related CHARGE syndrome | 29 | Boundary-CDS payload architecture | 0.206897 | 1.000000 |