Details for Combination OLI1588

VARIANTS TARDBP:c.859G>A, p.Gly287Ser in Heterozygous form; NEK1:p.Glu102Ter in Heterozygous form; ERBB4:c.3446C>A, p.Gly1149Val in Heterozygous form; VEGFA:c.1015C>T, p.Arg339Trp in Heterozygous form
GENE COMBINATION ERBB4; NEK1; TARDBP; VEGFA
OLIGOGENIC EFFECT Unknown
ETHNICITY Unknown
OMIM IDS 615515; 608627; 300857; 205250; 611895; 612069; 617839; 616208; 613435; 608030; 612577; 614696; 614808; 105400; 616437; 613954; 606070; 608031; 617892; 615426; 606640
DISEASES Amyotrophic lateral sclerosis
REFERENCES 35426263
SCORES
FAMmanual
1

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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