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 Occurrence - TTL Representation

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@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 -------------------------------------------------------------------

 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 fhir: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" ]     ] )
  ] . #