Details for Combination OLI1479

VARIANTS SLCO1B1:c.1738C>T, p.Arg580Ter in Homozygous form; Copy Number Variant insertion on chromosome 12 of the exon3 in the gene SLCO1B3 in Homozygous form
GENE COMBINATION SLCO1B1; SLCO1B3
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS 237450
DISEASES Rotor syndrome
REFERENCES 35257483
SCORES
FAMmanual
0

STAT
manualknowledgemeta
000

GENE
manualmanual harmonizedknowledgemeta
2303

VAR
manualknowledgemeta
011

FUN
manualmeta
02

FINAL
manualmeta
00


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