What you carry at this position in your DNA and what research says about it.
Severe Cholesterol Risk: 7/10 evidence, 5 publications.
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Sample genotype (not yours): G/G
Typical Cholesterol and Heart Risk
Two normal copies of the LDLR gene mean typical LDL cholesterol clearance. There is no genetic elevation of cardiovascular risk from this specific variant.
What this genotype means: Typical LDL cholesterol clearance; Standard baseline cardiovascular risk.
Sample genotype (not yours): G/GTGGC
Extremely High Cholesterol and Heart Risk
One copy of the duplication causes heterozygous familial hypercholesterolemia. This leads to severely elevated LDL cholesterol and high cardiovascular risk from a young age.
What this genotype means: Severely elevated LDL cholesterol levels; Highly increased risk of early-onset heart disease; Potential development of physical cholesterol deposits.
Sample genotype (not yours): GTGGC/GTGGC
Severe Early-Onset Cholesterol and Heart Risk
Two copies of the duplication cause homozygous familial hypercholesterolemia. This rare, life-threatening condition causes extremely high cholesterol and childhood cardiovascular disease.
What this genotype means: Extremely high LDL cholesterol levels; Aggressive childhood-onset cardiovascular disease; Widespread physical cholesterol deposits.
Gene function and biological role
Gene Function: The LDLR gene encodes the low-density lipoprotein receptor, which plays a critical role in regulating cholesterol levels in the blood. This receptor binds to low-density lipoprotein particles, commonly known as LDL or bad cholesterol, and removes them from circulation [1]. Once inside the cell, the cholesterol is broken down and recycled or used for cellular functions. Mutations in this gene can impair the receptor's ability to clear LDL, leading to its accumulation in the bloodstream [2]. This build-up of cholesterol significantly increases the risk of plaque formation in the arteries, which can lead to premature cardiovascular disease [3].
Variant Impact: A duplication of four nucleotides in exon 8 of the LDLR gene characterizes rs879254799, often designated as c.1120_1123dup. This insertion causes a frameshift mutation, changing the amino acid sequence starting at position 375 and introducing a premature stop codon just seven amino acids later [4]. The resulting truncated protein is completely non-functional, classifying this as a null mutation with virtually no residual receptor activity [5]. Because the body cannot produce functional LDL receptors from this mutated blueprint, LDL cholesterol levels rise dramatically [1]. This variant is a well-documented cause of autosomal dominant familial hypercholesterolemia [2].
Key Insight: This variant is a null mutation that completely disables the LDL receptor, causing cholesterol levels to skyrocket from birth.
Location: LDLR. Chromosome 19 · 19p13.2 · 11.1 Mb
Estimated prevalence by population
No frequency data available
This variant is not present in the gnomAD database.
Showing effects for G/G genotype
Cardiovascular & Metabolic
Lipids & Cholesterol
LDL Cholesterol. Evidence: 7/10. Source: PMID 30710474. Typical.
Tendon Xanthomas. Evidence: 7/10. Source: PMID 28645073. Typical.
Heart Disease
Coronary Artery Disease. Evidence: 7/10. Source: PMID 20809525. Typical Risk.
Early Heart Attack. Evidence: 7/10. Source: PMID 20809525. Typical Risk.
Showing effects for G/GTGGC genotype
LDL Cholesterol. Evidence: 7/10. Source: PMID 30710474. Severely Elevated.
Tendon Xanthomas. Evidence: 7/10. Source: PMID 28645073. Increased Risk.
Coronary Artery Disease. Evidence: 7/10. Source: PMID 20809525. Highly Increased.
Early Heart Attack. Evidence: 7/10. Source: PMID 20809525. Highly Increased.
Showing effects for GTGGC/GTGGC genotype
LDL Cholesterol. Evidence: 7/10. Source: PMID 30710474. Extremely Elevated.
Tendon Xanthomas. Evidence: 7/10. Source: PMID 28645073. Highly Increased.
Coronary Artery Disease. Evidence: 7/10. Source: PMID 20809525. Extreme Risk.
Early Heart Attack. Evidence: 7/10. Source: PMID 20809525. Extreme Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Two normal copies of the LDLR gene indicate typical receptor function and normal clearance of low-density lipoprotein from the bloodstream. This baseline status does not carry the pathogenic duplication associated with familial hypercholesterolemia, meaning cholesterol levels are influenced primarily by other genetic factors and lifestyle choices [1]. Standard lipid profiles are typically maintained unless other risk factors are present [2]. Cardiovascular risk remains at the general population average, without the severe genetic elevation seen in mutation carriers [3].
Typical LDL cholesterol clearance; Standard baseline cardiovascular risk.
Sample genotype: GGTGGC (Heterozygous)
A single copy of this duplication leads to heterozygous familial hypercholesterolemia, a condition characterized by a fifty percent reduction in functional LDL receptors [1]. This impairment causes LDL cholesterol levels to double or triple compared to typical levels, often exceeding two hundred milligrams per deciliter even in childhood [2]. Over time, the excess cholesterol deposits in the arteries, dramatically increasing the risk of early-onset coronary artery disease and heart attacks [3]. Physical signs such as tendon xanthomas or corneal arcus may develop as cholesterol accumulates in tissues [4]. First-degree relatives have a fifty percent chance of inheriting the same variant.
Severely elevated LDL cholesterol levels; Highly increased risk of early-onset heart disease; Potential development of physical cholesterol deposits.
Sample genotype: GTGGCGTGGC (Homozygous)
Two copies of this duplication result in homozygous familial hypercholesterolemia, an extremely rare and severe condition where virtually no functional LDL receptors are produced [1]. LDL cholesterol levels can soar to extreme heights, often between five hundred and one thousand milligrams per deciliter [2]. Without functioning receptors, cholesterol rapidly accumulates in the blood vessels, leading to aggressive atherosclerosis and cardiovascular disease during childhood or adolescence [3]. Severe physical symptoms, including extensive xanthomas on the skin and tendons, are common [4].
Extremely high LDL cholesterol levels; Aggressive childhood-onset cardiovascular disease; Widespread physical cholesterol deposits.
Variants with shared genetic architecture
rs139624145 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs112029328 · LDLR Gene · Chr 19 · Familial Hypercholesterolemia
rs121908024 · LDLR Gene · Chr 19 · Severe Cholesterol Risk
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Analysis of LDLR variants from homozygous FH patients carrying multiple mutations in the LDLR gene.
Content updated August 2026.
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