Details for Combination OLI1370

VARIANTS CDH23:c.3178C>T, in Heterozygous form; PCDH15:c.3832C>A, in Heterozygous form
GENE COMBINATION CDH23; PCDH15
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 612632; 276902; 500004; 276900; 611383; 614990; 606943; 602097; 602083; 614504; 605472; 276901; 276904; 614869; 601067
DISEASES Usher syndrome
REFERENCES 35580552
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0303

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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