cat-vrs/examples/json/functionVariant-ex2.json at v1 · ga4gh/cat-vrs · GitHub

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{
  "id": "civic.mpid:186",
  "type": "CategoricalVariant",
  "name": "BRCA2 loss of function variants",
  "description": "An example categorical variant that uses FeatureContextConstraint and FunctionConstraint.",
  "constraints": [
    {
      "type": "FeatureContextConstraint",
      "featureContext": {
        "id": "hgnc:1101",
        "conceptType": "Gene",
        "name": "BRCA2",
        "primaryCoding": {
          "id": "hgnc:1101",
          "name": "BRCA2",
          "system": "https://www.genenames.org",
          "code": "HGNC:1101",
          "iris": [
            "https://www.genenames.org/data/gene-symbol-report/#!/hgnc_id/HGNC:1101"
          ]
        }
      }
    },
    {
      "type": "FunctionConstraint",
      "functionConsequence": {
        "id": "SO:0002054",
        "name": "loss of function",
        "primaryCoding": {
          "id": "SO:0002054",
          "name": "loss_of_function_variant",
          "system": "http://www.sequenceontology.org",
          "code": "SO:0002054",
          "iris": [
            "http://www.sequenceontology.org/browser/current_release/term/SO:0002054"
          ]
        }
      },
      "description": "Function consequence described as loss of function using Sequence Ontology."
    }
  ]
}