Details for Combination OLI1633

VARIANTS SETX:c.8C>T, p.Thr3Ile in Heterozygous form; FUS:c.170_172del, p.Ser57del in Heterozygous form
GENE COMBINATION FUS; SETX
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 612069; 614808; 617892; 615426; 611895; 608031; 606070; 606640; 613954; 205250; 608030; 615515; 617839; 300857; 105400; 608627; 614696; 613435; 616208; 616437; 612577
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
101

FUN
manualmeta
12

FINAL
manualmeta
01


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