Details for Combination OLI1330

VARIANTS IFNGR1:c.40G>A, in Heterozygous form; IL23R:c.257G>A, in Heterozygous form; JAK1:c.414C>T, in Heterozygous form; PPP1R9B:c.759_767del, in Heterozygous form
GENE COMBINATION IFNGR1; IL23R; JAK1; PPP1R9B
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Primary immunodeficiency
REFERENCES 36338958
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
101

FUN
manualmeta
00

FINAL
manualmeta
00


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