Details for Combination OLI431

VARIANTS SETX:c.7957A>G, p.Thr2653Ala in Heterozygous form; OPTN:c.1699A>G, p.Thr567Ala in Heterozygous form
GENE COMBINATION OPTN; SETX
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
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 32893042
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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