143890.G.4.1

Lebanon

Hypercholesterolemia; Increased LDL cholesterol concentration

Unknown

Variant Name	Allele Count	Allele Frequency	Associated Disease	Associated Gene
"Lebanese Allele" NM_000527.4:c.2043C>A			Hypercholesterolemia, Familial, 1
NM_174936.4:c.45_47GCT[9]			Hypercholesterolemia, Familial, 1
NM_174936.4:c.45_47GCT[10]			Hypercholesterolemia, Familial, 1

Mutations identified in a group of 44 unrelated probands and 7 relatives of the probands

Related Subjects

Subject Id	Country	HPO Terms	Sex	Family History	Parental Consanguinity	Remarks
143890.G.4.2	Lebanon	Hypercholesterolemia; Increased LDL cholesterol concentration	Unknown			Mutations identified in 6 probands who did not carry the p.Cys681Ter variant