Details for Combination OLI636

VARIANTS SQSTM1:c.822G>C, p.Glu274Asp in Heterozygous form; SOD1:c.341T>C, p.Ile114Thr in Heterozygous form
GENE COMBINATION SOD1; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 617839; 615426; 614808; 613435; 614696; 608030; 617892; 612577; 612069; 205250; 606070; 613954; 300857; 615515; 606640; 616208; 611895; 105400; 608031; 616437; 608627
DISEASES Amyotrophic lateral sclerosis
REFERENCES 32409511
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0122

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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