Details for Combination OLI948

VARIANTS GARS1:c.684C>G, p.Phe228Leu in Heterozygous form; SOD1:c.19T>A, p.Cys7Ser in Heterozygous form
GENE COMBINATION GARS1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 608030; 105400; 617892; 205250; 616437; 612577; 606640; 608031; 613954; 615515; 611895; 614696; 617839; 612069; 606070; 614808; 613435; 616208; 615426; 300857; 608627
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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