Details for Combination OLI817

VARIANTS LDLR:c.2431A>T, p.Lys811Ter in Heterozygous form; PCSK9:c.94G>A, p.Glu32Lys in Heterozygous form
GENE COMBINATION LDLR; PCSK9
OLIGOGENIC EFFECT Unknown
ETHNICITY East Asian
OMIM IDS N.A.
DISEASES NON RARE IN EUROPE: Heterozygous familial hypercholesterolemia
REFERENCES 30241732
SCORES
FAMmanual
0

STAT
manualknowledgemeta
011

GENE
manualmanual harmonizedknowledgemeta
0222

VAR
manualknowledgemeta
111

FUN
manualmeta
02

FINAL
manualmeta
01


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