Details for Combination OLI266

VARIANTS PCDH15:c.16delT, p.Tyr6IlefsTer6 in Heterozygous form; CDH23:c.9565C>T, p.Arg3189Trp in Heterozygous form
GENE COMBINATION CDH23; PCDH15
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614990; 618632; 276900; 606943; 602097; 276904; 602083; 614869; 612632; 601067
DISEASES Usher syndrome type 1
REFERENCES 15537665
SCORES
FAMmanual
1

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


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