Details for Combination OLI1787

VARIANTS NOD2:c.2798+158C>T, in Heterozygous form; MEFV:c.2177T>C, p.Val726Ala in Heterozygous form; NLRP3:c.2107C>A, p.Gln703Lys in Heterozygous form
GENE COMBINATION MEFV; NLRP3; 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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