Details for Combination OLI314

VARIANTS NDP:c.181C>A, p.Leu61Ile in Heterozygous form; ZNF408:c.1965_1968del, p.Glu656ArgfsTer36 in Heterozygous form
GENE COMBINATION NDP; ZNF408
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
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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