Details for Combination OLI437

VARIANTS OPTN:c.1634G>A, p.Arg545Gln in Heterozygous form; TARDBP:c.943G>A, p.Ala315Thr in Heterozygous form; DCTN1:c.3799G>A, p.Glu1267Lys in Homozygous form
GENE COMBINATION DCTN1; OPTN; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 608031; 105400; 615515; 606640; 612069; 614808; 612577; 300857; 613435; 611895; 614696; 608030; 606070; 616437; 616208; 608627; 617892; 615426; 613954; 617839; 205250
DISEASES Amyotrophic lateral sclerosis
REFERENCES 29411640
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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