A mutation is a change in the DNA of an organism. The change may or may not result a change to the physical characteristics (or phenotype) of the organism. Mutations that occur in a gamete (sperm or eggs) can be passed to the next generation, whereas mutations that occur in body (or 'somatic') cells may be harmless or may result in a disease such as cancer. Mutations can result in DNA being copied incorrectly. Mutagens can also cause mutations.

A point mutation is a change in one base in the genetic code. The change of one base to a different base (often caused by the DNA being copied incorrectly)-this is called a substitution mutation.

Autosomal mutations may result in:

Disease in an individual

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