Details for Combination OLI707

VARIANTS DCHS1:c.7384C>T, p.Arg2462Trp in Heterozygous form; DAAM1:c.3052C>T, p.Arg1018Cys in Heterozygous form; SETD2:c.5368C>T, p.Arg1790Trp in Heterozygous form
GENE COMBINATION DAAM1; DCHS1; SETD2
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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