Details for Combination OLI644

VARIANTS TBK1:c.2040dup, p.Asn681Ter in Heterozygous form; OPTN:c.491A>Y, p.Gln314Leu in Heterozygous form
GENE COMBINATION OPTN; TBK1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 606640; 616437; 614696; 608031; 612577; 613435; 205250; 617892; 614808; 615515; 613954; 616208; 105400; 611895; 300857; 608030; 615426; 612069; 617839; 606070; 608627
DISEASES Amyotrophic lateral sclerosis
REFERENCES 31000212
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2222

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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