MYO7A
Downstream-CDS high-coverage with context burden
| MANE transcript | ENST00000409709.9 |
|---|---|
| ClinVar P/LP records | 898 |
| Low-record-burden flag | no |
| Unit rows | 283 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 4.0% | 228 bp |
| Adjacent exon block | 14.6% | 717 bp |
| Downstream-CDS | 100.0% | 6,645 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 |
|---|---|---|---|---|
| Usher syndrome type 1 | 356 | Boundary-CDS payload architecture | 0.154494 | 1.000000 |
| Autosomal recessive nonsyndromic hearing loss 2 | 309 | Boundary-CDS payload architecture | 0.171521 | 1.000000 |
| Usher syndrome type 1B | 214 | Boundary-CDS payload architecture | 0.182243 | 1.000000 |
| Autosomal dominant nonsyndromic hearing loss 11 | 134 | Boundary-CDS payload architecture | 0.179104 | 1.000000 |
| Rare genetic deafness | 98 | Boundary-CDS payload architecture | 0.244898 | 1.000000 |
| Usher syndrome | 79 | Boundary-CDS payload architecture | 0.253165 | 1.000000 |
| Retinal dystrophy | 67 | Boundary-CDS payload architecture | 0.194030 | 1.000000 |
| MYO7A-related disorder | 30 | Boundary-CDS payload architecture | 0.300000 | 1.000000 |