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 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 35426263
SCORES
FAMmanual
1

STAT
manualknowledgemeta
100

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
011

FUN
manualmeta
01

FINAL
manualmeta
00


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