Details for Combination OLI440

VARIANTS SOD1:c.424G>A, p.Gly142Arg in Heterozygous form; SQSTM1:c.911C>T, p.Thr304Met in Heterozygous form
GENE COMBINATION SOD1; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615515; 608627; 300857; 205250; 611895; 612069; 617839; 616208; 613435; 608030; 612577; 614696; 614808; 105400; 616437; 613954; 606070; 608031; 617892; 615426; 606640
DISEASES Amyotrophic lateral sclerosis
REFERENCES 29411640
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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