Details for Combination OLI1699

VARIANTS SOD1:p.Val48Ala in Heterozygous form; OPTN:p.Ala433Val in Heterozygous form; TBK1:p.Arg573His in Heterozygous form
GENE COMBINATION OPTN; SOD1; TBK1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 608627; 612577; 616437; 205250; 608031; 613954; 606640; 615426; 617839; 606070; 611895; 616208; 608030; 300857; 617892; 105400; 615515; 613435; 614808; 614696; 612069
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37197644
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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