F2
Genetic findings for F2 in Schnitzler Syndrome
Variants (1)
| Variant | Type | Frequency | Significance |
|---|---|---|---|
| 3′UTR c.*97G>A | germline | 1 case (2025) | Novel finding in the 748th reported case. F2 encodes prothrombin — role in inflammasome regulation unclear. |
Clinical implications
3′UTR c.*97G>A
Significance uncertain. Needs replication.
Related hypotheses
NLRP3 somatic mosaicism is the primary driver in a subset of patients
20emerging·8 studies
Pyrin-inflammasome dysfunction (MEFV variants) contributes to pathogenesis
15emerging·4 studies