Details for Combination OLI104

VARIANTS USH1C:c.238_239dupC, p.Arg80fsTer69 in Homozygous form; CDH23:p.Arg3043Trp in Heterozygous form
GENE COMBINATION CDH23; USH1C
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 602083; 618632; 614990; 612632; 276900; 614869; 602097; 606943; 276904; 601067
DISEASES Usher syndrome type 1
REFERENCES 21569298
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0222

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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