Details for Combination OLI267

VARIANTS PCDH15:c.5601_5603delAAC, in Heterozygous form; CDH23:c.3625A>G, p.Thr1209Ala in Homozygous form
GENE COMBINATION CDH23; PCDH15
OLIGOGENIC EFFECT Unknown
ETHNICITY African
OMIM IDS 602083; 618632; 614990; 612632; 276900; 614869; 602097; 606943; 276904; 601067
DISEASES Usher syndrome type 1
REFERENCES 15537665
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
101

FUN
manualmeta
22

FINAL
manualmeta
00


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