Details for Combination OLI221

VARIANTS RANBP2:c.5249C>G, p.Pro1750Arg in Heterozygous form; CPT2:c.365C>T, p.Ser122Phe in Heterozygous form
GENE COMBINATION CPT2; RANBP2
OLIGOGENIC EFFECT True Digenic
ETHNICITY Indian
OMIM IDS 608033
DISEASES Familial acute necrotizing encephalopathy
REFERENCES 32102593
SCORES
FAMmanual
2

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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