Details for Combination OLI283

VARIANTS SETX:c.4660T>G, p.Cys1554Gly in Heterozygous form; DCTN1:c.3810C>A, p.His1270Gln in Heterozygous form; FIG4:c.2080A>G, p.Met694Val in Heterozygous form
GENE COMBINATION DCTN1; FIG4; SETX
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 25382069
SCORES
FAMmanual
0

STAT
manualknowledgemeta
212

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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