A mutation that is present for the first time in one family memeber as the result of a mutation in a germ cell of one of the parents or, a variant that arises in the fertilized egg itself during early embryogenesis.
Synonyms:
de novo
A mutation that is present for the first time in one family memeber as the result of a mutation in a germ cell of one of the parents or, a variant that arises in the fertilized egg itself during early embryogenesis.