Genes
SPTBN2
This gene is related to these conditions:
Effect of Variations on the SPTBN2
Variants are common variations in genes that can significantly impact the health and traits of an individual. This section shows all variants that are located on SPTBN2 as well as their associated conditions, traits and drugs.
Did you know that gene anomalies are relatively common?
On average, each person has approximately 100 to 400 genes that are not normal (with different genes being affected in different people). However, usually, the matching gene on the other chromosome within the pair is normal, which helps prevent any potential negative consequences. In the broader population, the odds of someone having two copies of the same abnormal gene (and hence, a genetic disorder) are very low. However, this probability is higher for children whose parents are closely related by blood.
Dr. Wallerstorfer
Conditions caused and influenced by SPTBN2
Genetic abnormalities can significantly influence the likelihood of developing a certain condition, either increasing or decreasing the risk. These mutations can alter gene function, which may result in protein malfunction or a lack of protein production. However, even if a genetic mutation increases the risk, it doesn't necessarily mean the condition will develop as environmental and lifestyle factors also play a role.
Did you know the difference between mutations, genetic variations, variants and haplotypes?
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
Traits caused and influenced by SPTBN2
Abnormalities in genes can also have a significant impact on an individual's traits, or physical characteristics. These genetic mutations can affect the way certain traits are expressed by modifying the function of the related genes. However, the manifestation of these traits isn't determined by genetics alone. It's also influenced by a combination of environmental factors and interactions with other genes. Thus, while a gene mutation can potentially influence a trait, it doesn't necessarily dictate its final expression.
Variants located on SPTBN2
A genetic code of a gene usually has many differences in individual genetic letters or tiny pices of the DNA.
Did you know variants may affect drugs?
Variants can influence how our body reacts to certain drugs. The presence of specific variants can increase or decrease the efficiency and effectiveness of a drug, impacting how well it works inside our system. Additionally, certain 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