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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

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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
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