Details for Combination OLI1008

VARIANTS NEK1:c.2137G>A, p.Val713Met in Heterozygous form; SOD1:c.34G>T, p.Asp12Tyr in Heterozygous form
GENE COMBINATION NEK1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 300857; 612069; 613435; 614696; 616208; 608030; 205250; 614808; 611895; 612577; 105400; 616437; 617839; 617892; 608627; 613954; 615515; 615426; 606640; 608031; 606070
DISEASES Amyotrophic lateral sclerosis
REFERENCES 33445179
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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