Details for Combination OLI276

VARIANTS SETX:c.7640T>C, p.Ile2547Thr in Heterozygous form; FUS:c.1453C>T, p.Arg485Trp in Heterozygous form
GENE COMBINATION FUS; SETX
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615515; 617839; 613954; 612069; 205250; 105400; 614808; 612577; 608030; 616437; 617892; 300857; 608627; 614696; 616208; 615426; 606070; 606640; 608031; 611895; 613435
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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