ENG rs1064793734: What Your Genotype Means
The rs1064793734 variant is a rare genetic alteration located within the ENG gene, which provides instructions for making the endoglin protein. Changes in this gene are associated with hereditary hemorrhagic telangiectasia (HHT), a condition involving abnormal blood vessel development.
What each genotype means
Typical ENG variant profile
This genotype represents the most common form of the ENG gene sequence at this location. Because this variant is rare and lacks extensive clinical characterization, it is generally considered to have no known impact on vascular development or endoglin protein function.
This is the most common genotype observed across all major global populations.
Rare variant carrier
You carry one copy of this rare variant in the ENG gene. While the ENG gene is essential for vascular development, there is currently insufficient evidence to suggest that this specific rare variant causes any clinical condition or functional change in the endoglin protein.
This genotype is extremely rare and is found in a very small fraction of the global population.
Rare variant homozygous
You carry two copies of this rare variant in the ENG gene. Current scientific literature does not provide evidence that this specific variant is associated with hereditary hemorrhagic telangiectasia or other vascular disorders, though research on rare ENG variants is ongoing.
This genotype is exceptionally rare and is not commonly observed in standard population databases.
Understanding the Variant
The rs1064793734 variant is a specific change in the DNA sequence of the ENG gene. In genomics, a Single Nucleotide Polymorphism (SNP) like this represents a position where one of the four DNA building blocks—adenine (A), thymine (T), cytosine (C), or guanine (G)—differs between individuals. This specific variant sits within the ENG gene, which is located on chromosome 9. Scientists monitor such variants because they can alter the structure of the resulting protein or change how much of that protein is produced. Because rs1064793734 is classified as a rare variant, it is not found in the vast majority of the population. Understanding its location helps researchers determine if the variant interferes with the gene's ability to carry out its normal biological functions.
The Role of the ENG Gene
The ENG gene plays a vital role in the cardiovascular system by encoding a protein called endoglin. Endoglin is primarily found on the surface of endothelial cells, which are the cells that line the interior of all blood vessels. It acts as a co-receptor, helping cells respond to signaling molecules known as transforming growth factor-beta (TGF-β). This signaling pathway is essential for the proper formation, structure, and maintenance of blood vessels. By regulating how endothelial cells behave—including how they migrate and organize—the ENG gene ensures that arteries and veins are correctly connected by networks of small capillaries. When this process is disrupted, blood vessels may not develop their normal hierarchy, leading to fragile connections that are prone to bleeding or malformation.
Research and Associations
Scientific research links ENG gene mutations to Hereditary Hemorrhagic Telangiectasia type 1 (HHT1). HHT1 is a genetic disorder characterized by the development of abnormal blood vessels, such as telangiectasias (small, dilated vessels near the skin's surface) and arteriovenous malformations (AVMs), where arteries and veins connect directly without a capillary bed. Evidence for ENG-related HHT1 is strong, as many known pathogenic mutations in this gene result in a loss of functional endoglin protein. However, not every variant in the ENG gene causes disease. For a rare variant like rs1064793734, the evidence of its specific clinical impact is currently limited. Researchers often use computational models and family studies to assess whether a rare variant is likely to disrupt protein function or if it is a neutral change that does not affect health.
Navigating This Information
It is important to remember that having a specific genotype for a rare variant does not automatically mean a person has or will develop a condition. Genetic information is complex; many factors, including other genes and environmental influences, contribute to health outcomes. If you have questions about this variant or concerns about family medical history, the most appropriate step is to speak with a healthcare professional or a certified genetic counselor. They can help put this information into the context of your overall health and family history. You cannot use this information to diagnose yourself or others. Always consult with your clinician or pharmacist before making any decisions regarding your medical care or dosing of medications.
How common is this variant?
The rs1064793734 variant is considered rare across global populations. Because of this rarity, large-scale studies have not established significant differences in its frequency across different ancestral groups.
Frequently asked questions
What is the connection between ENG and HHT?
The ENG gene provides instructions for the endoglin protein, which is necessary for healthy blood vessel development. Mutations that reduce or eliminate functional endoglin can cause HHT1, a condition characterized by fragile blood vessels and abnormal connections between arteries and veins.
Can I use this SNP to diagnose HHT?
No. This information is for educational purposes only. Diagnosing a genetic condition like HHT requires a clinical evaluation by a healthcare professional, often involving a review of family history, physical symptoms, and formal genetic testing.
What does it mean for a variant to be "rare"?
A rare variant is one that appears in a very small percentage of the general population. Because these variants are uncommon, there is often less scientific data available about their specific effects compared to more common genetic variations.
If I have the GA genotype, will I get sick?
Not necessarily. Many rare variants are harmless. The presence of a variant does not equal a diagnosis, as health is influenced by many factors including your entire genetic profile and your environment.
Sources & further reading
Educational information only, last refreshed 10/3/2026. Not medical advice — these associations describe population statistics, not individual predictions.
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Genetic variant identified in the ENG gene, relevant for clinical screening of vascular disorders.
A known pathogenic mutation in the ENG gene linked to vascular malformations.
Pathogenic variant in the ENG gene associated with hereditary hemorrhagic telangiectasia type 1.
This variant is located within the ENG gene, which is associated with hereditary hemorrhagic telangiectasia.
Clinically significant variant in the ENG gene associated with hereditary hemorrhagic telangiectasia.
This ENG variant is documented in clinical databases regarding vascular health.