Details for Combination OLI1013

VARIANTS NEK1:c.2726C>G, p.Ser909Cys in Heterozygous form; FIG4:c.1879A>G, p.Thr627Ala in Heterozygous form
GENE COMBINATION FIG4; NEK1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 608627; 612577; 616437; 205250; 608031; 613954; 606640; 615426; 617839; 606070; 611895; 616208; 608030; 300857; 617892; 105400; 615515; 613435; 614808; 614696; 612069
DISEASES Amyotrophic lateral sclerosis
REFERENCES 33445179
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0011

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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