Details for Combination OLI777

VARIANTS SOD1:c.272A>C, p.Asp91Ala in Heterozygous form; UBQLN2:p.Gln460Arg in Heterozygous form
GENE COMBINATION SOD1; UBQLN2
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 28430856
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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