Glossary Term
Frameshift Mutation
PCR TermsEN
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.
Extended Notes
Source: National Cancer Institute, NCI Thesaurus 26.09d, C17354. NCI definition, reproduced without modification under CC BY 4.0. Source identity and definition checked automatically on 2026-10-20. No individual clinical interpretation or human reviewer is asserted.
Also Known As
FrameshiftFrameshift MutationFrameshift Mutation AbnormalityFrameshift VariantfsMutation, FrameshiftReading Frame Shift Mutation
References
- NCI Thesaurus 26.09d — Frameshift Mutation (C17354)
- Source: National Cancer Institute, NCI Thesaurus 26.09d, C17354. NCI definition, reproduced without modification under CC BY 4.0.
- Novel C-terminal frameshift mutation of ELN causes non-stenotic high-renin hypertension and systemic arterial dysplasia: implications for preventing aortic catastrophes. — Hypertens Res, 2026-10-05 (PMID 42834071; literature)
- A novel frameshift mutation in the GNAS gene causes plate-like osteoma cutis. — Eur J Dermatol, 2026-10-01 (PMID 42862187; literature)
- Autosomal Recessive Hypercholesterolemia Due to a Novel Homozygous LDLRAP1 Frameshift Mutation. — JACC Case Rep, 2026-09-11 (PMID 42730734; literature)
- Establishment of a human induced pluripotent stem cell line, KMUGMCi011-A, from a patient bearing a frameshift mutation in the KMT2D gene leading Kabuki syndrome 1. — Stem Cell Res, 2026-09-07 (PMID 42710432; literature)