Details for Combination OLI259

VARIANTS MYO7A:p.Ala771Ser in Heterozygous form; PCDH15:c.158-1G>A, in Heterozygous form
GENE COMBINATION MYO7A; PCDH15
OLIGOGENIC EFFECT True Digenic
ETHNICITY East Asian
OMIM IDS 614990; 618632; 276900; 606943; 602097; 276904; 602083; 614869; 612632; 601067
DISEASES Usher syndrome type 1
REFERENCES 24618850
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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