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Protein-truncating variant (PTV)

Definition
AI-generated

Variant introducing premature stop, frameshift, or splice disruption removing core domain—overlaps PTV burden tests.

Topics
Core genetics
Related
Loss Of Function Variant Nonsense 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

"Variant interpretation referenced Protein-truncating variant (PTV) context to prioritize likely functional consequences."

Loss Of Function Variant Nonsense 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.
← Protein Quantitative Trait Locus (pQTL) Proteome →

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