Details for Combination OLI778

VARIANTS SOD1:c.341T>C, p.Ile114Thr in Heterozygous form; ALS2:p.Pro1288Leu in Heterozygous form
GENE COMBINATION ALS2; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 205250; 615426; 608031; 612577; 615515; 300857; 614808; 611895; 616437; 614696; 608627; 616208; 617839; 612069; 617892; 608030; 105400; 606640; 606070; 613954; 613435
DISEASES Amyotrophic lateral sclerosis
REFERENCES 28430856
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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