Details for Combination OLI100

VARIANTS MYO7A:p.Gly519Asp in Heterozygous form; CDH23:p.Arg1060Trp in Heterozygous form; MYO7A:c.6070C>T, p.Arg2024Ter in Heterozygous form
GENE COMBINATION CDH23; MYO7A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614990; 618632; 276900; 606943; 602097; 276904; 602083; 614869; 612632; 601067
DISEASES Usher syndrome type 1
REFERENCES 21569298
SCORES
FAMmanual
1

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0323

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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