Details for Combination OLI1007

VARIANTS SLCO1B1:c.1738C>T, p.Arg580Ter in Homozygous form; Copy Number Variant insertion on chromosome 12 of the L1 in the gene SLCO1B3 in Homozygous form
GENE COMBINATION SLCO1B1; SLCO1B3
OLIGOGENIC EFFECT Unknown
ETHNICITY Japanese
OMIM IDS 237450
DISEASES Rotor syndrome
REFERENCES 25546334
SCORES
FAMmanual
1

STAT
manualknowledgemeta
202

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
011

FUN
manualmeta
12

FINAL
manualmeta
12


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