Details for Combination OLI1015

VARIANTS GLE1:c.75C>A, p.Tyr25Ter in Heterozygous form; OPTN:c.817G>T, p.Glu273Ter in Heterozygous form
GENE COMBINATION GLE1; OPTN
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 608031; 105400; 615515; 606640; 612069; 614808; 612577; 300857; 613435; 611895; 614696; 608030; 606070; 616437; 616208; 608627; 617892; 615426; 613954; 617839; 205250
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34025336
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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