Details for Combination OLI1702

VARIANTS TARDBP:p.Gly298Val in Heterozygous form; SETX:p.Ile1304Trp in Heterozygous form
GENE COMBINATION SETX; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615426; 612577; 615515; 617892; 612069; 608627; 614696; 608030; 614808; 613435; 616437; 611895; 300857; 105400; 205250; 617839; 616208; 608031; 606640; 613954; 606070
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37197644
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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