About: Frameshift Mutation

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An Entity of Type : owl:Class, within Data Space : linked.opendata.cz associated with source document(s)

Attributes	Values
rdf:type	Class
rdfs:label	Frameshift Mutation
rdfs:subClassOf	Mutation Abnormality
Semantic_Type	Cell or Molecular Dysfunction
Preferred_Name	Frameshift Mutation
UMLS_CUI	C0079380
ALT_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.NCI-GLOSS
Legacy_Concept_Name	Frameshift_Mutation
FULL_SYN	frameshift mutationPTNCI-GLOSSCDR0000460152 Reading Frame Shift MutationSYNCI Frameshift MutationPTNCI Mutation, FrameshiftSYNCI Frameshift Mutation AbnormalitySYNCI FrameshiftSYNCI
DEFINITION	A mutation occuring 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.NCI
code	C17354
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