Preferred Label : de novo Mutation;
NCIt related terms : new mutation;
NCIt definition : A gene mutation in an individual that was not present in or transmitted from their
ancestors. This type of mutation generally occurs spontaneously during the process
of cell division-associated DNA replication during embryonic or fetal development.;
Alternative definition : NCI-GLOSS: An alteration in a gene that is present for the first time in one family
member as a result of a mutation in a germ cell (egg or sperm) of one of the parents,
or a mutation that arises in the fertilized egg itself during early embryogenesis.;
Codes from synonyms : CDR0000460142; CDR0000460143;
Origin ID : C93106;
UMLS CUI : C2985439;
Semantic type(s)
- abnormality_associated_with_allele
- concept_is_in_subset
