Details for Combination OLI411

VARIANTS MEFV:p.Val726Ala in Heterozygous form; NLRP3:c.592G>A, p.Val198Met in Heterozygous form
GENE COMBINATION MEFV; NLRP3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 134610; 249100
DISEASES Familial Mediterranean fever
REFERENCES 27994174
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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