Details for Combination OLI1619

VARIANTS NEK1:c.1142T>A, p.Ile381Asn in Heterozygous form; ARHGEF28:c.1915A>G, p.Thr639Ala in Heterozygous form
GENE COMBINATION ARHGEF28; 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 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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