Details for Combination OLI107

VARIANTS CDH23:p.Arg1189Trp in Heterozygous form; USH2A:c.4031_4038del, p.Met1344LysfsTer42 in Heterozygous form
GENE COMBINATION CDH23; USH2A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 611383; 276901; 605472
DISEASES Usher syndrome type 2
REFERENCES 21569298
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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