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A variant present at the point of an individual’s conception. The variant is present in every cell in their body and can be passed on to the next generation.

Use in clinical context

Germline variants are responsible for inherited traits, including predispositions to particular diseases. Considering or identifying if someone has a germline variant predisposing them to a condition is important, not only for the individual, but their family members too as they may have also inherited the variant.

Related terms

Fertilisation | Germline | Variant

Last updated on 31st May, 2019