HNF1A
Compact downstream-CDS record-coverage hypothesis
| MANE transcript | ENST00000257555.11 |
|---|---|
| ClinVar P/LP records | 384 |
| Low-record-burden flag | no |
| Unit rows | 49 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 21.6% | 200 bp |
| Adjacent exon block | 74.7% | 1,333 bp |
| Downstream-CDS | 82.3% | 1,567 bp |
Why this classification?
- Downstream-CDS record coverage is 82.3% with an estimated payload of 1,567 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 |
|---|---|---|---|---|
| Monogenic diabetes | 230 | Diffuse/moderate architecture | 0.860870 | 0.782609 |
| Maturity-onset diabetes of the young | 131 | Boundary-CDS payload architecture | 0.702290 | 0.862595 |
| Maturity-onset diabetes of the young type 3 | 102 | Boundary-CDS payload architecture | 0.637255 | 0.862745 |
| Type 1 diabetes mellitus 20 | 26 | Boundary-CDS payload architecture | 0.615385 | 0.846154 |
| HNF1A-related disorder | 24 | Boundary-CDS payload architecture | 0.833333 | 1.000000 |
| Hepatic adenomas, familial | 23 | Boundary-CDS payload architecture | 0.608696 | 0.913043 |
| Diabetes mellitus type 1 | 22 | Boundary-CDS payload architecture | 0.590909 | 0.909091 |
| Type 2 diabetes mellitus | 20 | Boundary-CDS payload architecture | 0.600000 | 0.900000 |