Details for Combination OLI943

VARIANTS SOD1:c.26T>A, p.Leu9Gln in Heterozygous form; ELP3:c.564-2A>C, in Heterozygous form
GENE COMBINATION ELP3; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 606640; 617892; 615515; 612069; 612577; 613435; 105400; 611895; 616437; 608030; 617839; 606070; 615426; 300857; 608031; 614696; 616208; 613954; 614808; 205250; 608627
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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