Details for Combination OLI1768

VARIANTS NOD2:c.2798+158C>T, in Heterozygous form; NOD2:c.2104C>T, p.Arg702Trp in Heterozygous form; NLRP3:c.592G>A, p.Val200Met in Heterozygous form
GENE COMBINATION 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


Found any issues with the data on this page? Report this entry.