Enum: G2PVariantTypeGroup

The primary type grouping under which G2P organises the variant types associated with a curated gene-disease pair.

Permissible Values

Value	Title	Description
NMD_VARIANTS	NMD_variants	Variant types qualified by whether the resulting transcript is predicted to trigger or escape nonsense-mediated decay.
SPLICE_VARIANTS	splice_variants	Variant types affecting splice sites or splice regions.
REGULATORY_VARIANTS	regulatory_variants	Variant types in untranslated or regulatory regions.
PROTEIN_CHANGING_VARIANTS	protein_changing_variants	Variant types that change the coding sequence of the gene product.
OTHER_VARIANTS	other_variants	Variant types not covered by the NMD, splice, regulatory or protein changing groups, including structural and repeat changes.

Slots

Name	Description
g2p_variant_type_group	The primary type grouping a variant type belongs to

Identifier and Mapping Information

Annotations

property	value
stewards	https://www.ebi.ac.uk/gene2phenotype
publishers	https://www.ebi.ac.uk/gene2phenotype
source	https://www.ebi.ac.uk/gene2phenotype/about/terminology#variant-types-section

Schema Source

from schema: https://w3id.org/valuesets

LinkML Source

name: G2PVariantTypeGroup
instantiates:
- valuesets_meta:ValueSetEnumDefinition
annotations:
  stewards:
    tag: stewards
    value: https://www.ebi.ac.uk/gene2phenotype
  publishers:
    tag: publishers
    value: https://www.ebi.ac.uk/gene2phenotype
  source:
    tag: source
    value: https://www.ebi.ac.uk/gene2phenotype/about/terminology#variant-types-section
description: The primary type grouping under which G2P organises the variant types
  associated with a curated gene-disease pair.
title: G2P Variant Type Group
from_schema: https://w3id.org/valuesets
contributors:
- orcid:0000-0002-6601-2165
- https://github.com/anthropics/claude-code
status: STANDARD
rank: 1000
permissible_values:
  NMD_VARIANTS:
    text: NMD_VARIANTS
    description: Variant types qualified by whether the resulting transcript is predicted
      to trigger or escape nonsense-mediated decay.
    title: NMD_variants
  SPLICE_VARIANTS:
    text: SPLICE_VARIANTS
    description: Variant types affecting splice sites or splice regions.
    title: splice_variants
  REGULATORY_VARIANTS:
    text: REGULATORY_VARIANTS
    description: Variant types in untranslated or regulatory regions.
    title: regulatory_variants
  PROTEIN_CHANGING_VARIANTS:
    text: PROTEIN_CHANGING_VARIANTS
    description: Variant types that change the coding sequence of the gene product.
    title: protein_changing_variants
  OTHER_VARIANTS:
    text: OTHER_VARIANTS
    description: Variant types not covered by the NMD, splice, regulatory or protein
      changing groups, including structural and repeat changes.
    title: other_variants