Details for Combination OLI262

VARIANTS MYO7A:None, p.Lys542GlnfsTer5 in Homozygous form; CDH23:c.2568C>G, p.Ile856Met in Heterozygous form
GENE COMBINATION CDH23; MYO7A
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 614990; 618632; 276900; 606943; 602097; 276904; 602083; 614869; 612632; 601067
DISEASES Usher syndrome type 1
REFERENCES 24618850
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2323

VAR
manualknowledgemeta
000

FUN
manualmeta
01

FINAL
manualmeta
00


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