Details for Combination OLI508

VARIANTS CELSR1:c.3364G>A, p.Gly1122Ser in Heterozygous form; DVL3:c.443G>A, p.Arg148Gln in Heterozygous form
GENE COMBINATION CELSR1; DVL3
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Isolated anencephaly
REFERENCES 29573971
SCORES
FAMmanual
2

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
33


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