Details for Combination OLI680

VARIANTS FAT1:p.Gly855Arg in Heterozygous form; LRP2:p.Asn3205Asp in Heterozygous form
GENE COMBINATION FAT1; LRP2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 609408; 157170; 614226; 605934; 610829; 236100; 142946; 612530; 147250; 610828; 609637; 142945
DISEASES Holoprosencephaly
REFERENCES 30508070
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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