Details for Combination OLI1037

VARIANTS USH1C:c.1823C>G, p.Pro608Arg in Heterozygous form; MYO7A:c.6247G>A, p.Ala2083Thr in Heterozygous form
GENE COMBINATION MYO7A; USH1C
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612924; 156000; 612926; 615008; 612922; 235400; 612923; 609814; 612925
DISEASES Atypical hemolytic uremic syndrome; Meniere Disease
REFERENCES 34391192
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
22


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