Details for Combination OLI826

VARIANTS NEK1:c.782G>A, p.Arg261His in Heterozygous form; TBK1:c.1892_1894del, p.Leu631del in Heterozygous form
GENE COMBINATION NEK1; TBK1
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 31475037
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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