Gene
F2
1 variant(s) documented across Schnitzler Syndrome
Variants
| Variant | Type | Frequency in disease | Significance | Also found in |
|---|---|---|---|---|
| 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.
Testing: whole exome sequencing
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