Details for Combination OLI1459

VARIANTS SPG11:c.4365G>C, p.Trp1455Cys in Heterozygous form; TARDBP:c.881G>T, p.Gly294Val in Heterozygous form
GENE COMBINATION SPG11; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
OMIM IDS 608627; 608030; 617839; 300857; 616208; 613954; 615515; 606070; 105400; 614696; 608031; 611895; 617892; 612577; 205250; 613435; 614808; 615426; 606640; 612069; 616437
DISEASES Amyotrophic lateral sclerosis
REFERENCES 36028943
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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