Details for Combination OLI1036

VARIANTS CDH23:c.6512G>A, p.Arg2176His in Heterozygous form; MYO7A:c.4635G>A, p.Trp1545Ter in Heterozygous form
GENE COMBINATION CDH23; MYO7A
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612925; 612923; 612922; 156000; 612924; 609814; 612926; 235400; 615008
DISEASES Atypical hemolytic uremic syndrome; Meniere Disease
REFERENCES 34391192
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
3323

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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