PROTECT-CHILD Pediatric Transplant Data Implementation Guide, published by Protect Child. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/hl7-eu/protect-child/ and changes regularly. See the Directory of published versions

• Narrative Content
• XML
• JSON
• TTL

: Example Variant Annotation - JSON Representation

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{
  "resourceType" : "Basic",
  "id" : "variant-annotation-example-1",
  "meta" : {
    "profile" : [
      🔗 "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation"
    ]
  },
  "text" : {
    "status" : "extensions",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Basic variant-annotation-example-1</b></p><a name=\"variant-annotation-example-1\"> </a><a name=\"hcvariant-annotation-example-1\"> </a><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\"/><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant-annotation.html\">Variant Annotation</a></p></div><p><b>Variant occurrence ID relationship</b>: <a href=\"Basic-variant-occurrence-example-1.html\">Basic Single nucleotide variant</a></p><p><b>Annotation database</b>: ClinVar</p><p><b>Variant origin</b>: germline</p><p><b>Variant pathogenicity</b>: pathogenic</p><p><b>Variant class level</b>: ACMG Class 5</p><p><b>Variant tier level</b>: Tier 1</p><p><b>Allele frequency</b>: 0.0001</p><p><b>Medication</b>: PARP inhibitor</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id</code>/VA0001</p><p><b>code</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type clinical}\">Clinical variant annotation</span></p></div>"
  },
  "extension" : [
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-occurrence-ref",
      "valueReference" : {
        🔗 "reference" : "Basic/variant-occurrence-example-1"
      }
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-annotation-database",
      "valueString" : "ClinVar"
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-origin",
      "valueString" : "germline"
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-pathogeny",
      "valueString" : "pathogenic"
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-class-level",
      "valueString" : "ACMG Class 5"
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-variant-tier-level",
      "valueString" : "Tier 1"
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-allele-frequency",
      "valueDecimal" : 0.0001
    },
    {
      "url" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-annotation-medication",
      "valueString" : "PARP inhibitor"
    }
  ],
  "identifier" : [
    {
      "system" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-annotation-id",
      "value" : "VA0001"
    }
  ],
  "code" : {
    "coding" : [
      {
        "system" : "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-annotation-type",
        "code" : "clinical",
        "display" : "Clinical variant annotation"
      }
    ]
  }
}