{"code":"C62198","name":"Nonsense Mutation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Stop Gained","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"caDSR"},{"name":"Nonsense","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"Stop Gain","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"nonsense mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000671174"},{"name":"Nonsense Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Premature Termination Abnormality","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Premature Termination Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Stop Gain","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Nonsense Mutation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A mutation that alters the genetic code in a way that causes the premature termination of a protein. The altered protein may be partially or completely inactivated, resulting in a change or loss of protein function.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"},{"definition":"A point mutation occurring within the protein-coding region of a gene, and which codes for a stop that can truncate the protein.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Nonsense_Mutation"},{"code":"P375","type":"Maps_To","value":"Nonsense"},{"code":"P375","type":"Maps_To","value":"Stop Gain"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0544885"}]}