Details for Combination OLI694

VARIANTS FOLR3:c.664T>C, p.Ser222Pro in Heterozygous form; ALDH1L1:c.2341A>C, p.Thr781Pro in Heterozygous form
GENE COMBINATION ALDH1L1; FOLR3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29205322
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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