Details for Combination OLI419

VARIANTS FZD4:c.1250G>A, p.Arg417Gln in Heterozygous form; LRP5:c.1330C>T, p.Arg444Cys in Heterozygous form
GENE COMBINATION FZD4; LRP5
OLIGOGENIC EFFECT Unknown
ETHNICITY Japanese
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 15981244
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2202

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
01


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