Details for Combination OLI120

VARIANTS USH2A:c.4338_4339del, p.Cys1447GlnfsTer29 in Homozygous form; PDZD7:c.166dup, p.Arg56ProfsTer24 in Heterozygous form
GENE COMBINATION PDZD7; USH2A
OLIGOGENIC EFFECT Monogenic+Modifier
ETHNICITY European/Caucasian
OMIM IDS 276901; 611383; 605472
DISEASES Usher syndrome type 2
REFERENCES 20440071
SCORES
FAMmanual
2

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
011

FUN
manualmeta
12

FINAL
manualmeta
12


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