Frameshift Mutation

Preferred Label : Frameshift Mutation;

NCIt synonyms : Reading Frame Shift Mutation; Frameshift; Frameshift Mutation Abnormality; Mutation, Frameshift; Frameshift Variant; fs;

NCIt 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.;

Alternative definition : NCI-GLOSS: 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.;

Codes from synonyms : CDR0000460152;

Details

Origin ID

C17354;

UMLS CUI

C0079380;

Automatic exact mappings (from CISMeF team)
- Frame-shift mutation (finding) [SNOMED CT concept]
- frame-shift mutation [IUPAC Term]
Currated CISMeF NLP mapping
- Reading-frame-shift mutation (finding) [SNOMED CT concept]
- frameshift mutation [MeSH Descriptor]
- frameshift mutation [MeSH concept]
Semantic type(s)
- Cell or Molecular Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- frameshift mutation [MeSH concept]
- frameshift mutation [MeSH Descriptor]
abnormality_associated_with_allele
- CYP2C19*2 Allele [NCIt concept]
- CYP2C19*3 Allele [NCIt concept]
- CYP2C8*5 Allele [NCIt concept]
- CYP2C9*6 Allele [NCIt concept]
- CYP2D6*13 Allele [NCIt concept]
- CYP2D6*15 Allele [NCIt concept]
- CYP2D6*16 Allele [NCIt concept]
- CYP2D6*19 Allele [NCIt concept]
- CYP2D6*20 Allele [NCIt concept]
- CYP2D6*21 Allele [NCIt concept]
- CYP2D6*3 Allele [NCIt concept]
- CYP2D6*38 Allele [NCIt concept]
- CYP2D6*42 Allele [NCIt concept]
- CYP2D6*6 Allele [NCIt concept]
- CYP3A5*6 Allele [NCIt concept]
concept_is_in_subset
- GDC Terminology [NCIt concept]
- GDC Value Terminology [NCIt concept]

Keyword's position in hierarchy(ies) :

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