Skip to content

Nonsense Variant

Definition
AI-generated

A nonsense variant is a coding variant that introduces a premature stop codon, potentially truncating the encoded protein.

Topics
Core genetics
Related
Frameshift Variant Loss-of-Function Variant Missense Variant

Why it matters in GWAS

Nonsense variants are often treated as high-impact candidates because they can strongly disrupt gene function and may contribute to disease risk through loss of function.

Example usage

"Sequencing follow-up identified a nonsense variant in the implicated gene among cases."

Frameshift Variant Loss-of-Function Variant Missense Variant Variant Annotation
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • McLaren W, et al. (2016). The Ensembl Variant Effect Predictor. Genome Biol.
← Nonsense-mediated decay (NMD) Normal distribution →

Last updated (UTC · Git history)