Details for Combination OLI219

VARIANTS IFNGR2:c.800delT, p.Phe267SerfsTer5 in Homozygous form; IFNAR1:c.1671_1821del, p.Ter557GluextTer46 in Homozygous form
GENE COMBINATION IFNAR1; IFNGR2
OLIGOGENIC EFFECT Unknown
ETHNICITY Middle eastern
OMIM IDS N.A.
DISEASES Primary immunodeficiency
REFERENCES 29106381
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
202

FUN
manualmeta
33

FINAL
manualmeta
22


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