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Stop-gain variant

Definition
AI-generated

Variant introducing a premature termination codon (nonsense or elongation-to-stop context).

Topics
Core genetics
Related
Nonsense Variant Nonsense Mediated Decay Loss Of Function Variant

Why it matters in GWAS

GWAS hits are interpreted through gene structure, regulation, and variant consequence; molecular vocabulary connects association statistics to mechanism.

Example usage

"Quality-controlled Stop-gain variant data were used to prioritize robust loci and downstream functional follow-up."

Nonsense Variant Nonsense Mediated Decay Loss Of Function Variant
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

  • Griffiths AJF, et al. (2015). An Introduction to Genetic Analysis. W. H. Freeman.
← Stone Age Stop-loss variant →

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