Genetic variation
12:g.114354431T>C
This variation affects:
Overview
12:g.114354431T>C is a genetic variant on gene TBX5 associated with Heart-hand syndrome.
This variant is located on chromosome 12. The variations at position 114354431 are the genetic letters C/C, T/T, A/T, C/T
Since humans have each twice (one from each parent), these letter-variations occur on both chromosomes. People can have the same or different letters on both chromosomes. Every person's individual variation combination is referred to as genotype. For variant 12:g.114354431T>C there are 4 currently known genotypes : C/C, T/T, A/T or C/T
Short Overview
Variant Location
12:g.114354431T>C is located on gene TBX5 in chromsome 12. Use the genome browser to explore the location of 12:g.114354431T>C and its genetic neighbourhood.
Conditions & Traits
12:g.114354431T>C affects the following conditions and traits:
Pharmacogenetics
12:g.114354431T>C affects the following drugs:
Diagnostics
12:g.114354431T>C is commonly tested together with other variants on the same gene.
Genome Browser
This interactive browser visualizes what no human can see with the naked eye - our DNA. From a down to a specific position on a . The position you are looking at here is the exact location of variant on gene TBX5. Explore more variants and their effects on the body by browsing left and right along the DNA strand.
Did you know genetic variants affect drugs?
Mutations are random changes in the DNA and genetic variations are differences in the DNA among people. Variants are tiny changes in just one piece of the DNA while haplotypes are groups of these changes that usually come together.
Dr. Wallerstorfer
Conditions & Traits of 12:g.114354431T>C
The different genotypes of variant 12:g.114354431T>C can affect the expression or likelyhood of developing certain traits or conditions. Current research shows that 1 condition and 0 traits are associated with 12:g.114354431T>C. The following table shows the relationship between genotypes and conditions and traits.
Did you know genetic variants affect drugs?
Genetic variants can influence how our body reacts to certain drugs. The presence of specific genetic variants can increase or decrease the efficiency and effectiveness of a drug, impacting how well it works inside our system. Additionally, certain genetic variants can heighten or lessen the toxicity of a drug, thereby affecting the risk of unwanted side effects. They can also alter how a drug is metabolized, which influences the appropriate dosage one should receive.
Dr. Wallerstorfer
Variant Classification based on Clinical Testing
Clinical testing classifications are designed to help doctors understand how genetic changes, known as variants, might affect a person’s health and guide medical decisions. Variants are labeled as Disease Causing (harmful), likely Disease Causing, Unknown Effect (unknown impact), Likely No Effect (likely not harmful), and No Effect (not harmful). This classification relies on a mix of family history, lab tests, and computer predictions to determine the impact of variants.
Variants can have different effects based on their location. Variants on the X chromosome often impact males more because they have only one X chromosome, while females have two. This influences the classification (effect) of the variant.
Classification for biological Unisex
Genotype
T
T
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
C
T
Level of evidence
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
C
C
Level of evidence
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
T
T
Level of evidence
No Effect
Unisex
1 Sources
Participants: 0
The genotype with the letters T/T is thought to have no effect on your disease risk. Carriers of this genetic result are usually not at risk of developing the disease.
Genotype
C
T
Level of evidence
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/T has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Genotype
C
C
Level of evidence
Unknown effect
Unisex
1 Sources
Participants: 0
The genotype with the letters C/C has an unknown effect on your disease risk. This means that the scientific evidence is still somewhat unclear about its effect.
Pharmacogenetics
The genetic variant 12:g.114354431T>C impacts how certain medications work in the body. This difference may cause some of us to require different dosage amounts to achieve the desired effects, while others might experience more apparent side-effects. As a result, healthcare providers may need to adjust prescriptions for those individuals with 12:g.114354431T>C. Ultimately, understanding our genetic makeup helps improve the overall effectiveness and usability of medications. Tailoring treatments based on genetics ensures a safer, more personalized healthcare experience.
Drugs related to 12:g.114354431T>C
All drugs that are linked to 12:g.114354431T>C are listed here.
Diagnostics
12:g.114354431T>C is commonly tested together with other variants on the same gene.
Related variants
Conditions and traits are often affected by more than one variant. It is important to understand these other factors to get a better understanding of how genetics affect certain conditions and traits. The following grid shows other variants that affect the same conditions and traits as 12:g.114354431T>C.
Genotype Distribution
Knowing your genome can actually tell you a lot about your ancestors.
The prevalence of the different genotypes is based on the native inhabitants of a region. In the map below you see how common each genotype is in the native inhabitants of those regions. Since genetic material is passed down form generation to generation, your DNA shows traces of the geographical origins of your ancestors.
This data is based on “The 1000 Genomes Project” which established one of the most detailed overviews of human genetic variations across the globe. The regions are broadly categorized into five continental groups: Africa, America, Europe, South Asia and East Asia. All continental groups together display the global prevalence. Click through the regions, to learn more about the local prevalence of the possible genotypes.
At present, there is no distribution data available for SNP 6489956. 6489956.
Studies and Sources
All of the resources below examine variant
Xuefei Yuan, Ian C. Scott, Michael D. Wilson