Details for Combination OLI058

VARIANTS UNC13D:c.460C>T, p.Arg154Trp in Heterozygous form; PRF1:c.305G>T, p.Cys102Phe in Heterozygous form
GENE COMBINATION PRF1; UNC13D
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
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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