t(2;15)(q23.1;q25.3)

Source

ClinVar variation 1177130: t(2;15)(q23.1;q25.3)

Recipes that example satisfies

None

Properties

id: clinvar:1177130: ClinVar Variation ID, where 1177130 is the Variation ID listed within the Identifiers section of ClinVar’s Variant Details.
type: CategoricalVariant: This value is required by the specification for all Categorical Variant objects.
name: t(2;15)(q23.1;q25.3): Human-readable label listed within the Identifiers section of ClinVar’s Variant Details.
description: This described variant is an example of a categorical variant being modeled without constraints. This may be useful to model types of categorical variants as necessary constraints are still being developed.: This note was provided to state why this example does not have any Constraints.
aliases: null: No aliases included.
extensions: cytogenetic location and ClinVar variant details: The cytogenetic location (2q23.1-23.2) and ClinVar variation type (Translocation) are obtained from the Location and Type and length sections of ClinVar’s Variant Details.
mappings: null: No mappings included.

Constraints

This example does not apply any constraints. Implementers may choose to represent Categorical Variants in this way while waiting for the specification to support a means to model them.

Members

This example does not include members.

Full example: JSON

{
  "id": "clinvar:1177130",
  "type": "CategoricalVariant",
  "name": "t(2;15)(q23.1;q25.3)",
  "description": "This described variant is an example of a categorical variant being modeled without constraints. This may be useful to model types of categorical variants as necessary constraints are still being developed.",
  "extensions": [
    {
      "name": "cytogenetic location",
      "value": "2q23.1-23.2"
    },
    {
      "name": "clinvar variation type",
      "value": "Translocation"
    }
  ]
}

Full example: YAML

id: clinvar:1177130
type: CategoricalVariant
name: t(2;15)(q23.1;q25.3)
description: This described variant is an example of a categorical variant being modeled without constraints. This may be useful to model types of categorical variants as necessary constraints are still being developed.
extensions:
  - name: cytogenetic location
    value: 2q23.1-23.2
  - name: clinvar variation type
    value: Translocation