Glossary Term

Splice-Site Mutation

PCR TermsEN

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.

Extended Notes

Source: National Cancer Institute, NCI Thesaurus 26.09d, C19798. 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

Splice Region VariantSplice-Juction MutationSplice-Site MutationSplice-Site Mutation Abnormality

References

NCI Thesaurus 26.09d — Splice-Site Mutation (C19798)
Source: National Cancer Institute, NCI Thesaurus 26.09d, C19798. NCI definition, reproduced without modification under CC BY 4.0.