{"code":"C62200","name":"Point Mutation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"point mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000460204"},{"name":"Point Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Point Mutation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A small-scale mutation in which a single nucleotide is exchanged for another. Mutagenic chemicals and mistakes in DNA replication may result in point mutations.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"An alteration in a DNA sequence caused by the substitution of a single nucleotide for another nucleotide.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P366","type":"Legacy Concept Name","value":"Point_Mutation"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0162735"}]}