NLRP3, NLR family pyrin domain containing 3, 114548

N. diseases: 805; N. variants: 74
Disease: Cryopyrin-Associated Periodic Syndromes ×
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121908150
rs121908150
Entrez Id: 114548
Gene Symbol: NLRP3
NLRP3
CUI: C2316212
Disease:
Cryopyrin-Associated Periodic Syndromes 		0.010 GeneticVariation BEFREE The genetic analysis detected the heterozygous germline p.R260W mutation in the NLRP3 gene in the three women, confirming the diagnosis of CAPS. 24501247 2014