Details for Combination OLI636

VARIANTS SQSTM1:c.822G>C, p.Glu274Asp in Heterozygous form; SOD1:c.341T>C, p.Ile114Thr in Heterozygous form
GENE COMBINATION SOD1; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 613954; 105400; 608627; 615426; 608031; 612577; 613435; 606640; 611895; 300857; 617839; 615515; 614808; 205250; 614696; 616208; 617892; 616437; 606070; 612069; 608030
DISEASES Amyotrophic lateral sclerosis
REFERENCES 32409511
SCORES
FAMmanual
0

STAT
manualknowledgemeta
111

GENE
manualmanual harmonizedknowledgemeta
0122

VAR
manualknowledgemeta
000

FUN
manualmeta
00

FINAL
manualmeta
00


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