Details for Combination OLI967

VARIANTS SOD1:c.272A>C, p.Asp91Ala in Homozygous form; TUBA4A:c.227-74C>T, in Heterozygous form; SPG11:p.Leu2357Phe in Heterozygous form; PON1:c.575A>G, p.Gln192Arg in Heterozygous form; GRN:c.*78C>T, in Homozygous form; VAPB:c.*753C>G, in Heterozygous form
GENE COMBINATION GRN; PON1; SOD1; SPG11; TUBA4A; VAPB
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 34946792
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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