Details for Combination OLI306

VARIANTS LRP5:c.3538G>A, p.Val1180Met in Heterozygous form; FZD4:c.1482G>A, p.Trp494Ter in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY East Asian
OMIM IDS 616468; 133780; 613310; 305390; 601813; 617572; 605750
DISEASES Familial exudative vitreoretinopathy
REFERENCES 30097784
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1202

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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