A mutation refers to any change from the normal to an altered form of a particular gene.
In a clinical setting, it is often reserved to describe a variant causing a disease, particularly on laboratory reports. Some patients and families find the use of the term "mutation" upsetting, and so in clinical practice the term "altered gene" is often used in place of the technical term.
Scientifically, "mutation" may also be used to describe a benign, normal variant because the usual gene has undergone alteration to form the variant.
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