Details for Combination OLI1713

VARIANTS LRBA:p.Ile2744Thr in Heterozygous form; PIK3CD:p.Arg408Cys in Heterozygous form; MYSM1:p.Pro760Leu in Heterozygous form
GENE COMBINATION LRBA; MYSM1; PIK3CD
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613496; 146830; 616576; 240500; 614699; 613495; 615577; 613493; 607594; 613494
DISEASES Common variable immunodeficiency
REFERENCES 38028622
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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