{"code":"C17354","name":"Frameshift Mutation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Frameshift Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"frameshift mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI-GLOSS","code":"CDR0000460152"},{"name":"Frameshift","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Frameshift Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Frameshift Mutation Abnormality","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Frameshift Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"fs","termType":"AB","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Mutation, Frameshift","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Reading Frame Shift Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Frameshift Mutation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"A mutation occurring within the protein-coding region of a gene which results in a shift in the reading frame of the encoded protein. Frameshift mutations often result in the premature truncation of a gene product.","code":"P97","type":"DEFINITION","source":"NCI"},{"definition":"An insertion or deletion involving a number of base pairs that is not a multiple of three, which consequently disrupts the triplet reading frame of a DNA sequence. Such mutations usually lead to the creation of a premature termination (stop) codon, and result in a truncated (shorter-than-normal) protein product.","code":"P325","type":"ALT_DEFINITION","source":"NCI-GLOSS"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Frameshift_Mutation"},{"code":"P375","type":"Maps_To","value":"Frameshift Mutation"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C0079380"}]}