Details for Combination OLI744

VARIANTS ALX1:c.182A>G, p.His61Arg in Heterozygous form; ZNRF3:c.981C>A, p.His327Gln in Heterozygous form; FAT4:c.10147G>A, p.Gly3383Ser in Heterozygous form; FZD1:c.211C>T, p.Arg71Trp in Heterozygous form
GENE COMBINATION ALX1; FAT4; FZD1; ZNRF3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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