Details for Combination OLI514

VARIANTS C3:c.3313A>C, p.Lys1105Gln in Heterozygous form; CD46:c.97+5G>A, in Heterozygous form
GENE COMBINATION C3; CD46
OLIGOGENIC EFFECT True Digenic
ETHNICITY Japanese
OMIM IDS 612924; 612926; 615008; 612922; 235400; 612923; 609814; 612925
DISEASES Atypical hemolytic uremic syndrome
REFERENCES 29556035
SCORES
FAMmanual
2

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
212

FUN
manualmeta
22

FINAL
manualmeta
22


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