{
  "resourceType" : "Observation",
  "id" : "molec-conseq3",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/molecular-consequence"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation molec-conseq3</b></p><a name=\"molec-conseq3\"> </a><a name=\"hcmolec-conseq3\"> </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-molecular-consequence.html\">Molecular Consequence</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}\">Genetics</span></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs molecular-consequence}\">Molecular Consequence</span></p><p><b>subject</b>: <a href=\"Patient-HG00403.html\">Alanine B. Everyone  Unknown, DoB: 1951-01-20 ( Medical Record Number: m234\u00a0(use:\u00a0usual,\u00a0))</a></p><p><b>effective</b>: 2023-06-01</p><p><b>performer</b>: <a href=\"Organization-ExampleLab.html\">Organization Some lab</a></p><p><b>interpretation</b>: <span title=\"Codes:{http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction MOD}\">Modifier</span></p><p><b>derivedFrom</b>: <a href=\"Observation-variant-with-molec-consequences.html\">Observation Genetic variant assessment</a></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48004-6}\">coding HGVS</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NM_001395543.1:c.-171T&gt;C}\">NM_001395543.1:c.-171T&gt;C</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:{http://www.ncbi.nlm.nih.gov/refseq NM_001395543.1}\">NM_001395543.1</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs feature-consequence}\">Feature Consequence</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001623}\">5_prime_UTR_variant</span></p></blockquote></div>"
  },
  "status" : "final",
  "category" : [{
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/observation-category",
      "code" : "laboratory"
    }]
  },
  {
    "coding" : [{
      "system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
      "code" : "GE"
    }]
  }],
  "code" : {
    "coding" : [{
      "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
      "code" : "molecular-consequence"
    }]
  },
  "subject" : {
    "reference" : "Patient/HG00403"
  },
  "effectiveDateTime" : "2023-06-01",
  "performer" : [{
    "reference" : "Organization/ExampleLab"
  }],
  "interpretation" : [{
    "coding" : [{
      "system" : "http://example.org/pcingola.github.io/SnpEff/se_inputoutput/#impact-prediction",
      "code" : "MOD",
      "display" : "Modifier"
    }]
  }],
  "derivedFrom" : [{
    "reference" : "Observation/variant-with-molec-consequences"
  }],
  "component" : [{
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48004-6"
      }],
      "text" : "coding HGVS"
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NM_001395543.1:c.-171T>C",
        "display" : "NM_001395543.1:c.-171T>C"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "51958-7",
        "display" : "Transcript reference sequence [ID]"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.ncbi.nlm.nih.gov/refseq",
        "code" : "NM_001395543.1",
        "display" : "NM_001395543.1"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
        "code" : "feature-consequence"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.sequenceontology.org",
        "code" : "SO:0001623",
        "display" : "5_prime_UTR_variant"
      }]
    }
  }]
}