Details for Combination OLI1712

VARIANTS CD8A:p.Arg174Gln in Heterozygous form; PIK3R1:c.336+1G>A, in Heterozygous form; TNFRSF13B:p.Arg84Thr in Heterozygous form
GENE COMBINATION CD8A; PIK3R1; TNFRSF13B
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 607594; 613494; 240500; 614699; 613495; 146830; 615577; 613496; 613493; 616576
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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