Details for Combination OLI453

VARIANTS FZD4:c.349T>C, p.Cys117Arg in Heterozygous form; TSPAN12:c.565T>C, p.Cys189Arg in Heterozygous form
GENE COMBINATION FZD4; TSPAN12
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY Moroccan
OMIM IDS 613310; 617572; 133780; 601813; 605750; 616468; 305390
DISEASES Familial exudative vitreoretinopathy
REFERENCES 28211206
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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