Details for Combination OLI1629

VARIANTS NEFH:c.883G>A, p.Val295Met in Heterozygous form; ARHGEF28:c.4645G>A, p.Glu1549Lys in Heterozygous form
GENE COMBINATION ARHGEF28; NEFH
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 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
111

FUN
manualmeta
11

FINAL
manualmeta
00


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