Terminology Service for NFDI4Health
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Gene Mutation

Go to external page http://purl.obolibrary.org/obo/NCIT_C18093

The result of any gain, loss or alteration of the sequences comprising a gene, including all sequences transcribed into RNA. [ ]

Term info

Label

Gene Mutation

Synonyms
  • DNA Alteration
  • DNA Sequence Alteration
  • Gene Alteration
  • Gene Mutation
  • Gene Mutation Type
  • Sequence Alteration
Legacy Concept Name

Gene_Mutation

Preferred Name

Gene Mutation

Semantic Type

Cell or Molecular Dysfunction

UMLS CUI

C0596611

code

C18093

Term relations