Details for Combination OLI712

VARIANTS FOLR3:c.755T>A, p.Ile252Asn in Heterozygous form; FAT4:c.5792A>G, p.Tyr1931Cys in Heterozygous form; FAT4:c.10384A>G, p.Ile3462Val in Heterozygous form; FZD6:c.544G>A, p.Ala182Thr in Heterozygous form
GENE COMBINATION FAT4; FOLR3; FZD6
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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