Details for Combination OLI103

VARIANTS MYO7A:p.Leu2186Pro in Heterozygous form; USH1G:p.Leu16Val in Heterozygous form; USH2A:p.Cys3307Trp in Heterozygous form
GENE COMBINATION MYO7A; USH1G; USH2A
OLIGOGENIC EFFECT True Digenic
ETHNICITY European/Caucasian
OMIM IDS 612632; 614869; 276904; 614990; 601067; 602083; 276900; 618632; 602097; 606943
DISEASES Usher syndrome type 1
REFERENCES 21569298
SCORES
FAMmanual
2

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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