Library · Genetics
Genetic variant
Make it clearer
A genetic variant is a permanent change in the DNA sequence that makes up a gene. DNA is written with building blocks called nucleotides, and a variant may change just one of those blocks or several.
It used to be called a gene mutation, and the name changed for a substantive reason: changes in DNA do not always cause disease, so calling them variants is more precise than calling them mutations. Some variants are inherited: they pass from parent to child and stay with the child for life, present in virtually all of their cells. Those are called germline variants, because they were already there in the egg or the sperm from the very beginning.
In brief
A genetic variant is a permanent change in the DNA sequence that makes up a gene, and it can affect one nucleotide or several.
It used to be called a gene mutation; because changes in DNA do not always cause disease, genetic variant is considered the more precise term.
Inherited variants pass from parent to child and stay with a person for life in nearly all of their cells; these are also called germline variants.
Sources (1)
- MedlinePlus Genetics, U.S. National Library of MedicineWhat is a gene variant and how do variants occur?Published
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
Updated