HBA1
Mechanism-complex limitation
| MANE transcript | ENST00000320868.9 |
|---|---|
| ClinVar P/LP records | 139 |
| Low-record-burden flag | no |
| Unit rows | 8 |
Unit-level record coverage
| Unit type | Best record coverage | Estimated payload |
|---|---|---|
| Single exon | 43.2% | 205 bp |
| Adjacent exon block | 90.6% | 577 bp |
| Downstream-CDS | 71.2% | 331 bp |
Why this classification?
- The disease mechanism may involve repeat, noncoding, splicing, or other biology not captured by VCF record coverage alone.
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 |
|---|---|---|---|---|
| alpha Thalassemia | 118 | Mechanism-complex limitation | 0.915254 | 0.618644 |
| Erythrocytosis, familial, 7 | 35 | Mechanism-complex limitation | 0.942857 | 0.628571 |
| Heinz body anemia | 25 | Mechanism-complex limitation | 0.920000 | 0.520000 |
| Methemoglobinemia, alpha type | 23 | Mechanism-complex limitation | 1.000000 | 0.565217 |
| Hemoglobin H disease | 23 | Mechanism-complex limitation | 0.956522 | 0.521739 |