Details for Combination OLI949

VARIANTS GARS1:c.2171C>A, p.Pro724His in Heterozygous form; NEK1:c.259dupG, p.Asp87fs in Heterozygous form
GENE COMBINATION GARS1; NEK1
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 613435; 608627; 612069; 616208; 617839; 612577; 616437; 606070; 105400; 614808; 613954; 606640; 205250; 615426; 608031; 615515; 608030; 611895; 617892; 614696; 300857
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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