Details for Combination OLI277

VARIANTS DCTN1:c.3146G>A, p.Arg1049Gln in Heterozygous form; SETX:c.968G>A, p.Ser323Asn in Heterozygous form
GENE COMBINATION DCTN1; SETX
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 606640; 617892; 615515; 612069; 612577; 613435; 105400; 611895; 616437; 608030; 617839; 606070; 615426; 300857; 608031; 614696; 616208; 613954; 614808; 205250; 608627
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.