Details for Combination OLI056

VARIANTS UNC13D:c.3229_3235del, p.Arg1077SerfsTer12 in Heterozygous form; XIAP:c.1057-2A>G, in Hemizygous form
GENE COMBINATION UNC13D; XIAP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Primary hemophagocytic lymphohistiocytosis
REFERENCES 29665027
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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