Asked by: Vitali Malvarscience genetics
What is HGVS nomenclature?
Last Updated: 10th January, 2020
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In this manner, how do you describe mutations?
A Mutation occurs when a DNA gene is damaged or changed in such a way as to alter the genetic message carried by that gene. A Mutagen is an agent of substance that can bring about a permanent alteration to the physical composition of a DNA gene such that the genetic message is changed.
Similarly, what does HGVS stand for? Human Genome Variation Society
Similarly, what is a sequence variant?
The Sequence Feature Variant Type (SFVT) refers to the defined sequence variation (mutation) of a given sequence feature in a protein. Consider a protein, its amino acid sequence determines its structure and function.
What is an example of a mutation?
For example, sickle cell anemia is caused by a substitution in the beta-hemoglobin gene, which alters a single amino acid in the protein produced. change a codon to one that encodes the same amino acid and causes no change in the protein produced. These are called silent mutations.