Details for Combination OLI524

VARIANTS PRF1:c.992C>T, p.Ser331Leu in Heterozygous form; UNC13D:c.1232G>A, p.Arg411Gln in Heterozygous form
GENE COMBINATION PRF1; UNC13D
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 267700; 608898; 603553; 613101; 603552
DISEASES Familial hemophagocytic lymphohistiocytosis
REFERENCES 24916509
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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