Details for Combination OLI1017

VARIANTS SLCO1B1:c.1738C>T, p.Arg580Ter in Homozygous form; Copy Number Variant deletion on chromosome 12 of the exon12 in the gene SLCO1B3 in Homozygous form
GENE COMBINATION SLCO1B1; SLCO1B3
OLIGOGENIC EFFECT Unknown
ETHNICITY European/Caucasian
OMIM IDS 237450
DISEASES Rotor syndrome
REFERENCES 22232210
SCORES
FAMmanual
1

STAT
manualknowledgemeta
101

GENE
manualmanual harmonizedknowledgemeta
3303

VAR
manualknowledgemeta
111

FUN
manualmeta
22

FINAL
manualmeta
11


Found any issues with the data on this page? Report this entry.