Details for Combination OLI1632

VARIANTS SQSTM1:c.1175C>T, p.Pro392Leu in Heterozygous form; PRPH:c.1376G>A, p.Arg459His in Heterozygous form
GENE COMBINATION PRPH; SQSTM1
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 615515; 617839; 613954; 612069; 205250; 105400; 614808; 612577; 608030; 616437; 617892; 300857; 608627; 614696; 616208; 615426; 606070; 606640; 608031; 611895; 613435
DISEASES Amyotrophic lateral sclerosis
REFERENCES 37223130
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
1122

VAR
manualknowledgemeta
111

FUN
manualmeta
12

FINAL
manualmeta
01


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