HNF1B
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000617811.5 |
|---|---|
| ClinVar P/LP records | 273 |
| Low-record-burden flag | no |
| Unit rows | 43 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 29.7% | 200 bp |
| Adjacent exon block | 86.4% | 1,381 bp |
| Downstream-CDS | 84.6% | 1,327 bp |
Why this classification?
- Downstream-CDS record coverage is 84.6% with an estimated payload of 1,327 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 |
|---|---|---|---|---|
| Renal cysts and diabetes syndrome | 245 | Boundary-CDS payload architecture | 0.857143 | 0.820408 |
| Maturity-onset diabetes of the young | 32 | Donor/payload-burden caveat | 0.812500 | 0.750000 |
| Type 2 diabetes mellitus | 29 | Boundary-CDS payload architecture | 0.965517 | 0.896552 |
| Nonpapillary renal cell carcinoma | 27 | Boundary-CDS payload architecture | 0.962963 | 0.925926 |