Details for Combination OLI964

VARIANTS SOD1:c.272A>C, p.Asp91Ala in Homozygous form; DCTN1:c.*21C>T, in Heterozygous form; NEK1:c.2255A>G, p.Glu752Gly in Homozygous form
GENE COMBINATION DCTN1; NEK1; SOD1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
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 34946792
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1101

VAR
manualknowledgemeta
202

FUN
manualmeta
22

FINAL
manualmeta
11


Found any issues with the data on this page? Report this entry.