Details for Combination OLI1628

VARIANTS SOD1:c.435G>C, p.Leu145Phe in Heterozygous form; NEK1:c.89A>G, p.Tyr30Cys in Heterozygous form
GENE COMBINATION NEK1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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