Details for Combination OLI282

VARIANTS SETX:c.7640T>C, p.Ile2547Thr in Heterozygous form; TAF15:c.1222C>T, p.Arg408Cys in Heterozygous form; SETX:c.41C>T, p.Thr14Ile in Heterozygous form
GENE COMBINATION SETX; TAF15
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615426; 612577; 615515; 617892; 612069; 608627; 614696; 608030; 614808; 613435; 616437; 611895; 300857; 105400; 205250; 617839; 616208; 608031; 606640; 613954; 606070
DISEASES Amyotrophic lateral sclerosis
REFERENCES 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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