Details for Combination OLI412

VARIANTS MEFV:c.442G>A, p.Glu148Gln in Heterozygous form; NLRP3:c.526C>T, p.Arg176Trp in Heterozygous form
GENE COMBINATION MEFV; NLRP3
OLIGOGENIC EFFECT Unknown
ETHNICITY Cypriot
OMIM IDS 134610; 249100
DISEASES Familial Mediterranean fever
REFERENCES 27994174
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
02


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