present in Gene: NLRP3
present in Chromosome: 1
Position on Chromosome: 247418855
Alleles of this Variant: G/A;C
rs200154873 in
NLRP3 gene and
Keratitis Fugax Hereditaria
PMID 29366613 2018 Keratoendotheliitis fugax hereditaria is an autoinflammatory cryopyrin-associated periodic syndrome caused by a missense mutation c.61G>C in exon 1 of NLRP3 in Finnish patients.