Details for Combination OLI1631

VARIANTS SOD1:c.313A>T, p.Ile105Phe in Heterozygous form; DCTN1:c.3134T>C, p.Ile1045Thr in Heterozygous form
GENE COMBINATION DCTN1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 300857; 612069; 613435; 614696; 616208; 608030; 205250; 614808; 611895; 612577; 105400; 616437; 617839; 617892; 608627; 613954; 615515; 615426; 606640; 608031; 606070
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
01


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