Details for Combination OLI642

VARIANTS FUS:c.*59G>A, None in Heterozygous form; TBK1:c.1445_1446delAT, p.Tyr482Ter in Heterozygous form
GENE COMBINATION FUS; TBK1
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 31000212
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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