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 616468; 133780; 613310; 305390; 601813; 617572; 605750
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


Found any issues with the data on this page? Report this entry.