Details for Combination OLI703

VARIANTS SALL2:c.503C>T, p.Pro168Leu in Heterozygous form; FTCD:c.643C>T, p.Arg215Cys in Heterozygous form; ALDH1L1:c.2266C>G, p.His756Asp in Heterozygous form; SCRIB:c.4896A>T, p.Glu1632Asp in Heterozygous form
GENE COMBINATION ALDH1L1; FTCD; SALL2; SCRIB
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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