Details for Combination OLI230

VARIANTS PINK1:c.1444G>A, p.Val482Met in Heterozygous form; Copy Number Variant deletion on chromosome 6 of the exon2 4 in the gene PRKN in Heterozygous form; Copy Number Variant deletion on chromosome 6 of the exon3 in the gene PRKN in Heterozygous form
GENE COMBINATION PINK1; PRKN
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES Parkinson disease
REFERENCES 32713623
SCORES
FAMmanual
0

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
2323

VAR
manualknowledgemeta
000

FUN
manualmeta
01

FINAL
manualmeta
00


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