Details for Combination OLI1334

VARIANTS STAT1:c.373-2A>C, in Heterozygous form; IL12RB1:c.1619, in Heterozygous form
GENE COMBINATION IL12RB1; STAT1
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS N.A.
DISEASES Primary immunodeficiency
REFERENCES 36338958
SCORES
FAMmanual
0

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
101

FUN
manualmeta
22

FINAL
manualmeta
10
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