< Resources

Download

Intronic Variant Quick Reference

Use the Intronic Variant Quick Reference to learn the common intronic nucleotide designations and their organization within a gene to aid in variant interpretation

Submit the form to download your file:

The Intronic Variant Quick Reference (IVQR) is a visual depiction of common nucleotides in intronic regions and their numbering directions. Use this tool to learn the common intronic nucleotide designations and their organization within a gene to aid in your variant interpretation activities.

Includes variant nomenclature definitions for splice donor variant, splice acceptor variant, deep intronic variant, 5 prime (5′) UTR variant, 3 prime (3′) UTR variant, and IVS nomenclature.

Concepts covered:

  • Splice donor site
  • Splice acceptor site
  • Intronic nomenclature
  • Intronic nucleotide numbering
  • Intronic base numbering
  • Splice variant nomenclature
  • Splice variant numbering
  • Which nucleotides are at the splice donor site
  • Which nucleotides are at the splice acceptor site
  • UTR nomenclature
  • 3 prime UTR nomenclature (3′)
  • 5 prime UTR nomenclature (5′)
  • HGVS intronic nomenclature
  • HGVS intronic numbering
  • HGVS intronic nucleotides
The World’s Most Comprehensive Source of Genomic Evidence

Mastermind accelerates variant interpretation with immediate insight into the full text of millions of scientific articles. Prioritize your search results by clinical relevance and find what you are looking for 5-10 times faster

Create your free account
The Most Comprehensive Source of Curated Genomic Evidence + Scientific Experts

We help provide insights into key genetic drivers of diseases and relevant biomarkers. By working together to understand this data, we enable scientists and researchers to make more informed decisions on programs of interest. To learn more about how we can partner together to find your genomic variant solutions, we invite you to click on the link below.

Contact Us
Thank you! Your submission has been received!
Oops! Something went wrong while submitting the form.