Details for Combination OLI1775

VARIANTS NOD2:c.1292C>T, p.Ser431Leu in Heterozygous form; NOD2:c.2377G>A, p.Val793Met in Heterozygous form; TNFRSF1A:c.362G>A, p.Arg121Gln in Heterozygous form
GENE COMBINATION NOD2; TNFRSF1A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Autoinflammatory syndrome
REFERENCES 37928541
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
02


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