Details for Combination OLI1032

VARIANTS SHROOM2:c.631G>A, p.Gly211Ser in Heterozygous form; MYO7A:c.3G>A, p.Met1 in Heterozygous form
GENE COMBINATION MYO7A; SHROOM2
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612924; 612926; 615008; 612922; 235400; 612923; 609814; 612925
DISEASES Atypical hemolytic uremic syndrome
REFERENCES 34391192
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
11


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