Details for Combination OLI309

VARIANTS LRP5:c.4084A>G, p.Ile1362Val in Heterozygous form; FZD4:c.283C>G, p.Gln95Glu in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Unknown
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
101

FUN
manualmeta
12

FINAL
manualmeta
01


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