Details for Combination OLI1719

VARIANTS LRBA:p.Asn2364Ser in Heterozygous form; IL10RA:p.Val233Met in Heterozygous form; IL10RB:p.Ala44Val in Heterozygous form
GENE COMBINATION IL10RA; IL10RB; LRBA
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
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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