Details for Combination OLI724

VARIANTS FTCD:c.643C>T, p.Arg215Cys in Heterozygous form; DACT1:c.1890G>T, p.Lys630Asn in Heterozygous form; SNX13:c.637G>T, p.Val213Leu in Heterozygous form; NAT1:c.938A>T, p.Asp313Val in Heterozygous form
GENE COMBINATION DACT1; FTCD; NAT1; SNX13
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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