Details for Combination OLI1033

VARIANTS CDH23:c.3845A>G, p.Asn1282Ser in Heterozygous form; MYO7A:c.1007G>A, p.Arg336His in Heterozygous form
GENE COMBINATION CDH23; MYO7A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 156000; 615008; 612926; 612922; 612924; 612925; 609814; 235400; 612923
DISEASES Atypical hemolytic uremic syndrome; Meniere Disease
REFERENCES 34391192
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
00


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