Details for Combination OLI1752

VARIANTS NOD2:c.2174C>G, p.Ala725Gly 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
212

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.