{
  "resourceType" : "Observation",
  "id" : "MII-EXA-MTB-Einfache-Variante",
  "meta" : {
    "profile" : ["https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-pr-mtb-einfache-variante|2026.0.1"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation MII-EXA-MTB-Einfache-Variante</b></p><a name=\"MII-EXA-MTB-Einfache-Variante\"> </a><a name=\"hcMII-EXA-MTB-Einfache-Variante\"> </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-mii-pr-mtb-einfache-variante.html\">MII PR MTB Einfache Varianteversion: null2026.0.1)</a></p></div><p><b>status</b>: Final</p><p><b>category</b>: <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/observation-category laboratory}\">Laboratory</span>, <span title=\"Codes:{http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetik</span></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"https://simplifier.net/resolve?scope=de.basisprofil.r4@1.5.4&amp;canonical=http://fhir.org/packages/de.basisprofil.r4/Patient/example\">Patient/example</a></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA9633-4}\">Present</span></p><p><b>method</b>: <span title=\"Codes:{http://loinc.org LA26398-0}\">Sequencing</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48000-4}\">Chromosome [Identifier] in Blood or Tissue by Molecular genetics method</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA21270-6}\">Chromosome 17</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48018-6}\">Gene studied [ID]</span></p><p><b>value</b>: <span title=\"Codes:{http://www.genenames.org/geneId HGNC:1097}\">BRAF</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 51958-7}\">Transcript reference sequence [ID]</span></p><p><b>value</b>: <span title=\"Codes:{https://www.ncbi.nlm.nih.gov/refseq/ NM_133433.4}\">NM_133433.4</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Exon #15</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 47999-8}\">DNA region name [Identifier]</span></p><p><b>value</b>: Codon #582 - #612</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81254-5}\">Genomic allele start-end</span></p><p><b>value</b>: 43044295-43125364</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">DNA change (c.HGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_004333.4:c.1799T&gt;A}\">NM_004333.4:c.1799T&gt;A</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org p.(Val600Glu)}\">p.(Val600Glu)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81258-6}\">Sample variant allelic frequency [NFr]</span></p><p><b>value</b>: 30.25 %<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM  code% = '%')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81252-9}\">Discrete genetic variant</span></p><p><b>value</b>: <span title=\"Codes:{http://www.ncbi.nlm.nih.gov/projects/SNP rs113488022}\">rs113488022</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory",
      "display" : "Laboratory"
    }]
  },
  {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "69548-6",
      "display" : "Genetic variant assessment"
    }]
  },
  "subject" : {
    "reference" : "Patient/example"
  },
  "valueCodeableConcept" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA9633-4",
      "display" : "Present"
    }]
  },
  "method" : {
    "coding" : [{
      "system" : "http://loinc.org",
      "code" : "LA26398-0",
      "display" : "Sequencing"
    }]
  },
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48000-4"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA21270-6",
        "display" : "Chromosome 17"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48018-6",
        "display" : "Gene studied [ID]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org/geneId",
        "code" : "HGNC:1097",
        "display" : "BRAF"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "51958-7"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "https://www.ncbi.nlm.nih.gov/refseq/",
        "code" : "NM_133433.4"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "47999-8",
        "display" : "DNA region name [Identifier]"
      }]
    },
    "valueString" : "Exon #15"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "47999-8",
        "display" : "DNA region name [Identifier]"
      }]
    },
    "valueString" : "Codon #582 - #612"
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81254-5"
      }]
    },
    "valueRange" : {
      "low" : {
        "value" : 43044295
      },
      "high" : {
        "value" : 43125364
      }
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48004-6",
        "display" : "DNA change (c.HGVS)"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NM_004333.4:c.1799T>A"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48005-3",
        "display" : "Amino acid change (pHGVS)"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "p.(Val600Glu)"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81258-6",
        "display" : "Sample variant allelic frequency [NFr]"
      }]
    },
    "valueQuantity" : {
      "value" : 30.25,
      "system" : "http://unitsofmeasure.org",
      "code" : "%"
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81252-9",
        "display" : "Discrete genetic variant"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.ncbi.nlm.nih.gov/projects/SNP",
        "code" : "rs113488022"
      }]
    }
  }]
}