What variation occurs in the mtDNA?

The most common type of mutation or variation found in mtDNA is called a “SNP” (stands for single nucleotide polymorphism). A SNP occurs when a single letter (nucleotide) in the DNA code is replaced with a different nucleotide.

For example, in this diagram, the “T” at location 40 is replaced by a “G.”

This mutation is documented as follows:

Location: 40

Nucleotide Change: T>G (also indicated as T40G)

In your mtDNA results report, your genetic variations will be documented the same way. These are all variation from the revised Cambridge Reference Sequence.

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