@prefix fhir: <http://hl7.org/fhir/> .
@prefix owl: <http://www.w3.org/2002/07/owl#> .
@prefix rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#> .
@prefix rdfs: <http://www.w3.org/2000/01/rdf-schema#> .
@prefix xsd: <http://www.w3.org/2001/XMLSchema#> .

# - resource -------------------------------------------------------------------

<https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/Basic/variant-occurrence-example-1> a fhir:Basic ;
  fhir:nodeRole fhir:treeRoot ;
  fhir:id [ fhir:v "variant-occurrence-example-1"] ; # 
  fhir:meta [
     fhir:profile ( [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence>
     ] )
  ] ; # 
  fhir:text [
     fhir:status [ fhir:v "extensions" ] ;
     fhir:div [ fhir:v "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p class=\"res-header-id\"><b>Generated Narrative: Basic variant-occurrence-example-1</b></p><a name=\"variant-occurrence-example-1\"> </a><a name=\"hcvariant-occurrence-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-occurrence.html\">Variant Occurrence</a></p></div><p><b>Target region ID relationship</b>: <a href=\"Basic-target-region-example-1.html\">Basic Gene-level target region</a></p><p><b>Reference sequence</b>: NM_007294.4</p><p><b>dbSNP rsID</b>: rs80357713</p><p><b>Reference allele</b>: A</p><p><b>Alternate allele</b>: C</p><p><b>HGVS c. notation</b>: c.5266dupC</p><p><b>HGVS p. notation</b>: p.(Gln1756Profs*74)</p><p><b>Variant read depth</b>: 120</p><p><b>Variant exon number</b>: 20</p><p><b>Copy number</b>: 2</p><p><b>CNV locus</b>: chr17:43044295-43125482</p><p><b>Fusion breakpoint</b>: NA</p><p><b>Fusion supporting reads</b>: 0</p><p><b>Sequence alteration</b>: missense_variant</p><p><b>Variant feature</b>: pathogenic_variant</p><p><b>Genetic origin</b>: somatic</p><p><b>Genotype</b>: heterozygous</p><p><b>identifier</b>: <code>https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-occurrence-id</code>/VO0001</p><p><b>code</b>: <span title=\"Codes:{https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-occurrence-type snv}\">Single nucleotide variant</span></p></div>"^^rdf:XMLLiteral ]
  ] ; # 
  fhir:extension ( [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-target-region-ref"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-target-region-ref>
     ] ;
     fhir:value [
       a fhir:Reference ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/Basic/target-region-example-1> ;
       fhir:reference [ fhir:v "Basic/target-region-example-1" ]
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-reference-sequence"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-reference-sequence>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "NM_007294.4"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-rs-id"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-rs-id>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "rs80357713"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-reference-allele"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-reference-allele>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "A"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-alternate-allele"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-alternate-allele>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "C"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-hgvs-c"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-hgvs-c>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "c.5266dupC"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-hgvs-p"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-hgvs-p>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "p.(Gln1756Profs*74)"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-read-depth"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-read-depth>
     ] ;
     fhir:value [
       a fhir:Integer ;
       fhir:v 120
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-exon-number"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-exon-number>
     ] ;
     fhir:value [
       a fhir:Integer ;
       fhir:v 20
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-copy-number"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-copy-number>
     ] ;
     fhir:value [
       a fhir:Decimal ;
       fhir:v "2"^^xsd:decimal
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-cnv-locus"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-cnv-locus>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "chr17:43044295-43125482"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-fusion-breakpoint"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-fusion-breakpoint>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "NA"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-fusion-supporting-reads"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-fusion-supporting-reads>
     ] ;
     fhir:value [
       a fhir:Integer ;
       fhir:v 0
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-sequence-alteration"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-sequence-alteration>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "missense_variant"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-feature"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-variant-feature>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "pathogenic_variant"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-genetic-origin"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-genetic-origin>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "somatic"
     ]
  ] [
     fhir:url [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-genotype"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/StructureDefinition/variant-occurrence-genotype>
     ] ;
     fhir:value [
       a fhir:String ;
       fhir:v "heterozygous"
     ]
  ] ) ; # 
  fhir:identifier ( [
     fhir:system [
       fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-occurrence-id"^^xsd:anyURI ;
       fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/NamingSystem/variant-occurrence-id>
     ] ;
     fhir:value [ fhir:v "VO0001" ]
  ] ) ; # 
  fhir:code [
     fhir:coding ( [
       fhir:system [
         fhir:v "https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-occurrence-type"^^xsd:anyURI ;
         fhir:l <https://hl7.eu/fhir/ig/hl7.eu.fhir.protect-child/CodeSystem/variant-occurrence-type>
       ] ;
       fhir:code [ fhir:v "snv" ] ;
       fhir:display [ fhir:v "Single nucleotide variant" ]
     ] )
  ] . # 

# -------------------------------------------------------------------------------------

