Details for Combination OLI1760

VARIANTS NOD2:c.3019dup, p.Leu1007fs in Heterozygous form; NLRP12:c.1854C>A, p.Tyr618Ter in Heterozygous form
GENE COMBINATION NLRP12; 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
011

FUN
manualmeta
02

FINAL
manualmeta
02


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