Details for Combination OLI130

VARIANTS NOD2:c.2857A>G, p.Lys953Glu in Heterozygous form; IL10RA:c.475A>G, p.Ser159Gly in Heterozygous form; IL10RA:c.1051A>G, p.Arg351Gly in Heterozygous form
GENE COMBINATION IL10RA; NOD2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612567; 613148
DISEASES Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
REFERENCES 24595243
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
01


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