{"code":"C19798","name":"Splice-Site Mutation","terminology":"ncit","version":"26.09d","conceptStatus":"DEFAULT","leaf":false,"active":true,"synonyms":[{"name":"Splice","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"Splice Region Variant","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"GDC"},{"name":"Splice Region Variant","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Splice-Juction Mutation","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Splice-Site Mutation","termType":"PT","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Splice-Site Mutation Abnormality","termType":"SY","type":"FULL_SYN","typeCode":"P90","source":"NCI"},{"name":"Splice-Site Mutation","type":"Preferred_Name","typeCode":"P108"}],"definitions":[{"definition":"Any mutation that occurs within the discrete sequences comprising the 5' or 3' splice sites of a gene that has a spliced message. Splice-site mutation may result in a deletion or insertion of extraneous amino acids in the gene product or a change in the reading frame of the spliced message.","code":"P97","type":"DEFINITION","source":"NCI"}],"properties":[{"code":"P322","type":"Contributing_Source","value":"GDC"},{"code":"P366","type":"Legacy Concept Name","value":"Splice-Site_Mutation"},{"code":"P375","type":"Maps_To","value":"Splice"},{"code":"P375","type":"Maps_To","value":"Splice Region Variant"},{"code":"P106","type":"Semantic_Type","value":"Cell or Molecular Dysfunction"},{"code":"P207","type":"UMLS_CUI","value":"C1519478"}]}