Details for Combination OLI1756

VARIANTS NOD2:c.2798+158C>T, in Heterozygous form; NOD2:c.2372G>A, p.Arg791Gln in Heterozygous form; MEFV:c.442G>A, p.Glu148Gln in Heterozygous form
GENE COMBINATION MEFV; NOD2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Autoinflammatory syndrome
REFERENCES 37928541
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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