rs756039188
This is a stop gained variant in the LDLR gene.
▶ClinVar annotation
Familial hypercholesterolemia; Hypercholesterolemia, familial, 1
View on ClinVar →▶Research that mentions this SNP (1)
▶Molecular characterization of familial hypercholesterolemia in Spain: Identification of 39 novel and 77 recurrent mutations in LDLRCase reportN=476Pilar Mozas et al.(2004)· Human Mutation
This study identified and characterized 116 mutations in the LDLR gene causing familial hypercholesterolemia (FH) in 476 Spanish patients: 39 novel mutations (8 missense, 5 nonsense, 15 frameshift, 5 splicing, 4 in-frame, 1 non-coding) and 77 previously reported mutations. At least one LDLR mutation was found in 329 patients (69%), with an additional 4 patients carrying the p.R3500Q mutation in the apoB gene. The study demonstrates broad molecular heterogeneity of FH in Spain.
About LDLR
The low density lipoprotein receptor (LDLR) gene family consists of cell surface proteins involved in receptor-mediated endocytosis of specific ligands. The encoded protein is normally bound at the cell membrane, where it binds low density lipoprotein/cholesterol and is taken into the cell. Lysosomes release the cholesterol, which is made available for repression of microsomal enzyme 3-hydroxy-3-methylglutaryl coenzyme A (HMG CoA) reductase, the rate-limiting step in cholesterol synthesis. At the same time, a reciprocal stimulation of cholesterol ester synthesis takes place. Mutations in this gene cause the autosomal dominant disorder, familial hypercholesterolemia. Alternate splicing results in multiple transcript variants.[provided by RefSeq, May 2022]
View all LDLR variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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