Details for Combination OLI102

VARIANTS MYO7A:c.2283-1G>T, in Homozygous form; ADGRV1:p.Asp4707Tyr in Heterozygous form
GENE COMBINATION ADGRV1; 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
0212

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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