Details for Combination OLI263

VARIANTS CDH23:p.Arg2107Ter in Homozygous form; USH1C:c.2437T>G, p.Tyr813Asp in Heterozygous form
GENE COMBINATION CDH23; USH1C
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 602083; 618632; 614990; 612632; 276900; 614869; 602097; 606943; 276904; 601067
DISEASES Usher syndrome type 1
REFERENCES 24618850
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


Found any issues with the data on this page? Report this entry.