Details for Combination OLI722

VARIANTS ZIC3:c.49G>T, p.Gly17Cys in Heterozygous form; BRCA1:c.2521C>T, p.Arg841Trp in Heterozygous form; NOS3:c.2753T>G, p.Phe918Cys in Heterozygous form; SCRIB:c.2524G>A, p.Gly842Arg in Heterozygous form
GENE COMBINATION BRCA1; NOS3; SCRIB; ZIC3
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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