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Slot: functional_impact

Functional consequence of the genetic variant (e.g., loss_of_function, gain_of_function, dominant_negative). Free text retained for legacy values; prefer functional_impact_category when a controlled value applies.

URI: dismech:slot/functional_impact Alias: functional_impact

Applicable Classes

Name Description Modifies Slot
GeneticContext A structured description of a genetic context that modifies phenotype frequen... no

Properties

Type and Range

Property Value
Range String
Domain Of GeneticContext

Cardinality and Requirements

Property Value

Identifier and Mapping Information

Schema Source

  • from schema: https://w3id.org/monarch-initiative/dismech

Mappings

Mapping Type Mapped Value
self dismech:functional_impact
native dismech:functional_impact

LinkML Source

name: functional_impact
description: Functional consequence of the genetic variant (e.g., loss_of_function,
  gain_of_function, dominant_negative). Free text retained for legacy values; prefer
  `functional_impact_category` when a controlled value applies.
from_schema: https://w3id.org/monarch-initiative/dismech
rank: 1000
alias: functional_impact
domain_of:
- GeneticContext
range: string