Details for Combination OLI1638

VARIANTS TARDBP:c.1243_*3delinsATCGATG, in Heterozygous form; DCTN1:c.59C>T, p.Ala20Val in Heterozygous form
GENE COMBINATION DCTN1; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
01


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