Details for Combination OLI739

VARIANTS EPCAM:c.643T>A, p.Tyr215Asn in Heterozygous form; ADGRA3:c.3185G>C, p.Cys1062Ser in Heterozygous form
GENE COMBINATION ADGRA3; EPCAM
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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