Details for Combination OLI270

VARIANTS SOD1:c.199C>G, p.Pro67Ala in Heterozygous form; SETX:c.7640T>C, p.Ile2547Thr in Heterozygous form
GENE COMBINATION SETX; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615515; 613435; 612577; 612069; 105400; 617839; 615426; 616437; 617892; 613954; 606640; 608030; 608627; 606070; 611895; 300857; 616208; 614808; 608031; 205250; 614696
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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