Details for Combination OLI304

VARIANTS LRP5:c.3922G>A, p.Gly1308Ser in Heterozygous form; FZD4:c.313A>G, p.Met105Val in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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