{
  "resourceType" : "Observation",
  "id" : "NTHL1-snv-var",
  "meta" : {
    "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"]
  },
  "text" : {
    "status" : "generated",
    "div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Observation NTHL1-snv-var</b></p><a name=\"NTHL1-snv-var\"> </a><a name=\"hcNTHL1-snv-var\"> </a><div style=\"display: inline-block; background-color: #fbffeb; 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.html\">Variant</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://loinc.org 69548-6}\">Genetic variant assessment</span></p><p><b>subject</b>: <a href=\"Patient-somaticPatient.html\">Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567\u00a0(use:\u00a0temp,\u00a0period:\u00a02021-01-01 --&gt; (ongoing)))</a></p><p><b>effective</b>: 2023-02-01</p><p><b>performer</b>: <a href=\"Practitioner-pathologistPractitioner.html\">Test Dolin (http://example.org/identifiers/persons#11d116)</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 48005-3}\">Amino acid change (pHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NP_002519.2:p.Trp243Ter}\">NP_002519.2:p.Trp243Ter</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48019-4}\">DNA change type</span></p><p><b>value</b>: <span title=\"Codes:{http://www.sequenceontology.org SO:0001483}\">SNV</span></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_002528.7:c.728G&gt;A}\">NM_002528.7:c.728G&gt;A</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 HGNC:8028}\">NTHL1</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/clinvar 962538}\">NM_002528.7(NTHL1):c.728G&gt;A (p.Trp243Ter)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 81290-9}\">Genomic DNA change (gHGVS)</span></p><p><b>value</b>: <span title=\"Codes:{http://varnomen.hgvs.org NC_000016.10:g.2040196C&gt;T}\">NC_000016.10:g.2040196C&gt;T</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title=\"Codes:{http://loinc.org 48002-0}\">Genomic source class [Type]</span></p><p><b>value</b>: <span title=\"Codes:{http://loinc.org LA6684-0}\">Somatic</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://loinc.org",
      "code" : "69548-6"
    }]
  },
  "subject" : {
    "reference" : "Patient/somaticPatient"
  },
  "effectiveDateTime" : "2023-02-01",
  "performer" : [{
    "reference" : "Practitioner/pathologistPractitioner"
  }],
  "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" : "48005-3"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NP_002519.2:p.Trp243Ter"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48019-4"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.sequenceontology.org",
        "code" : "SO:0001483",
        "display" : "SNV"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48004-6"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NM_002528.7:c.728G>A"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48018-6"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.genenames.org",
        "code" : "HGNC:8028",
        "display" : "NTHL1"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81252-9"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://www.ncbi.nlm.nih.gov/clinvar",
        "code" : "962538",
        "display" : "NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter)"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "81290-9"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://varnomen.hgvs.org",
        "code" : "NC_000016.10:g.2040196C>T"
      }]
    }
  },
  {
    "code" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "48002-0"
      }]
    },
    "valueCodeableConcept" : {
      "coding" : [{
        "system" : "http://loinc.org",
        "code" : "LA6684-0",
        "display" : "Somatic"
      }]
    }
  }]
}