Details for Combination OLI1309

VARIANTS TARDBP:p.Gly294Ala in Heterozygous form; GBA:p.Arg368His in Heterozygous form
GENE COMBINATION GBA; TARDBP
OLIGOGENIC EFFECT Unknown
ETHNICITY Tunisian
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 35793404
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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