Details for Combination OLI659

VARIANTS TARDBP:p.Gly294Val in Heterozygous form; SETX:c.3229G>A, p.Asp1077Asn in Heterozygous form
GENE COMBINATION SETX; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 614696; 300857; 608031; 612069; 616208; 105400; 612577; 608627; 613954; 615426; 617839; 205250; 613435; 606640; 616437; 615515; 611895; 614808; 608030; 606070; 617892
DISEASES Amyotrophic lateral sclerosis
REFERENCES 29525178
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0022

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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