Details for Combination OLI1329

VARIANTS GBP2:c.1149+14T>C, in Heterozygous form; GBP2:c.412G>A, in Heterozygous form; RNF123:c.3150+17C>T, in Heterozygous form; TYK2:c.2441C>T, in Heterozygous form; ZNFX1:c.2302, in Heterozygous form
GENE COMBINATION GBP2; RNF123; TYK2; ZNFX1
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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