Details for Combination OLI106

VARIANTS MYO7A:p.Lys268Arg in Heterozygous form; USH2A:p.Ser5030Ter in Heterozygous form
GENE COMBINATION MYO7A; USH2A
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 276901; 611383; 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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