Details for Combination OLI824

VARIANTS SQSTM1:c.1165G>C, p.Glu389Gln in Heterozygous form; SIGMAR1:c.125T>G, p.Ile42Arg in Heterozygous form
GENE COMBINATION SIGMAR1; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 616208; 612577; 613435; 608031; 614808; 105400; 608030; 615515; 615426; 205250; 300857; 614696; 608627; 606070; 606640; 611895; 616437; 612069; 617839; 613954; 617892
DISEASES Amyotrophic lateral sclerosis
REFERENCES 31475037
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
111

FUN
manualmeta
00

FINAL
manualmeta
00


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