Details for Combination OLI026

VARIANTS MEFV:c.622A>T, p.Ser208Cys in Homozygous form; TRAP1:c.383G>A, p.Arg128His in Homozygous form
GENE COMBINATION MEFV; TRAP1
OLIGOGENIC EFFECT True Digenic
ETHNICITY South Asian
OMIM IDS N.A.
DISEASES Autoinflammatory syndrome
REFERENCES 31882397
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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