Details for Combination OLI1636

VARIANTS TARDBP:c.881G>T, p.Gly294Val in Heterozygous form; MATR3:c.2533A>G, p.Lys845Glu in Heterozygous form
GENE COMBINATION MATR3; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 614696; 606070; 617839; 300857; 606640; 105400; 611895; 612069; 205250; 617892; 608627; 614808; 615426; 613435; 608031; 616208; 613954; 616437; 608030; 615515; 612577
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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