Details for Combination OLI544

VARIANTS UNC13D:c.2030T>C, p.Ile677Thr in Heterozygous form; STX11:c.221C>T, p.Thr74Met in Heterozygous form
GENE COMBINATION STX11; UNC13D
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 603553; 267700; 603552; 613101; 608898
DISEASES Familial hemophagocytic lymphohistiocytosis
REFERENCES 24916509
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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