Details for Combination OLI956

VARIANTS Copy Number Variant repeat on chromosome 12 repeating CAG at least 28 times in Heterozygous form; VCP:c.463C>T, p.Arg155Cys in Heterozygous form
GENE COMBINATION ATXN2; VCP
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 615515; 615426; 608030; 612577; 617839; 616208; 205250; 608031; 611895; 606640; 612069; 614696; 614808; 613435; 300857; 105400; 608627; 617892; 606070; 616437; 613954
DISEASES Amyotrophic lateral sclerosis
REFERENCES 34275688
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0000

VAR
manualknowledgemeta
011

FUN
manualmeta
00

FINAL
manualmeta
00


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