Details for Combination OLI452

VARIANTS XIAP:c.1396G>T, p.Gly466Ter in Hemizygous form; CD40LG:c.655G>A, p.Gly219Arg in Hemizygous form
GENE COMBINATION CD40LG; XIAP
OLIGOGENIC EFFECT Dual Molecular Diagnosis
ETHNICITY European/Caucasian
OMIM IDS 300635; 308240
DISEASES X-linked lymphoproliferative disease
REFERENCES 21543760
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


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