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
