Details for Combination OLI1716

VARIANTS NCF2:p.Phe116Ser in Heterozygous form; TCIRG1:p.Arg60Trp in Heterozygous form; TIRAP:p.Glu132Lys in Heterozygous form
GENE COMBINATION NCF2; TCIRG1; TIRAP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 607594; 616576; 146830; 613494; 614699; 615577; 613496; 613495; 240500; 613493
DISEASES Common variable immunodeficiency
REFERENCES 38028622
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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