This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version in its permanent home (it will always be available at this URL). For a full list of available versions, see the Directory of published versions
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<id value="variant-with-molec-consequences"/>
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<div xmlns="http://www.w3.org/1999/xhtml"><p class="res-header-id"><b>Generated Narrative: Observation variant-with-molec-consequences</b></p><a name="variant-with-molec-consequences"> </a><a name="hcvariant-with-molec-consequences"> </a><a name="variant-with-molec-consequences-en-US"> </a><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-HG00403.html">Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))</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>value</b>: <span title="Codes:{http://loinc.org LA9633-4}">Present</span></p><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48002-0}">Genomic source class</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6683-2}">Germline</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 48013-7}">Genomic reference sequence ID</span></p><p><b>value</b>: <span title="Codes:{http://www.ncbi.nlm.nih.gov/refseq NC_000001.10}">NC_000001.10</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 53034-5}">Allelic state</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA6706-1}">Heterozygous</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://varnomen.hgvs.org NC_000001.10:g.86852621A>G}">NC_000001.10:g.86852621A>G</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81258-6}">Sample VAF</span></p><p><b>value</b>: 0.6 relative frequency of a particular allele in the specimen<span style="background: LightGoldenRodYellow"> (Details: UCUM code1 = '1')</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69547-8}">Genomic Ref allele [ID]</span></p><p><b>value</b>: A</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 69551-0}">Genomic Alt allele [ID]</span></p><p><b>value</b>: G</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92822-6}">Genomic coord system</span></p><p><b>value</b>: <span title="Codes:{http://loinc.org LA30100-4}">0-based interval counting</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 81254-5}">Variant exact start-end</span></p><p><b>value</b>: 86852620-?</p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: <span title="Codes:{http://loinc.org 92821-8}">Population allele frequency</span></p><p><b>value</b>: 0.327084 1<span style="background: LightGoldenRodYellow"> (Details: UCUM code1 = '1')</span></p></blockquote></div>
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<status value="final"/>
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<code value="laboratory"/>
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<system value="http://terminology.hl7.org/CodeSystem/v2-0074"/>
<code value="GE"/>
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<system value="http://loinc.org"/>
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<display value="Genetic variant assessment"/>
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<subject>🔗
<reference value="Patient/HG00403"/>
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<effectiveDateTime value="2023-06-01"/>
<performer>🔗
<reference value="Organization/ExampleLab"/>
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<system value="http://loinc.org"/>
<code value="LA9633-4"/>
<display value="Present"/>
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<coding>
<system value="http://loinc.org"/>
<code value="48002-0"/>
<display value="Genomic source class"/>
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<system value="http://loinc.org"/>
<code value="LA6683-2"/>
<display value="Germline"/>
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<coding>
<system value="http://loinc.org"/>
<code value="48013-7"/>
<display value="Genomic reference sequence ID"/>
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<coding>
<system value="http://www.ncbi.nlm.nih.gov/refseq"/>
<code value="NC_000001.10"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="53034-5"/>
<display value="Allelic state"/>
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<coding>
<system value="http://loinc.org"/>
<code value="LA6706-1"/>
<display value="Heterozygous"/>
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<component>
<code>
<coding>
<system value="http://loinc.org"/>
<code value="81252-9"/>
<display value="Discrete genetic variant"/>
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<system value="http://varnomen.hgvs.org"/>
<code value="NC_000001.10:g.86852621A>G"/>
<display value="NC_000001.10:g.86852621A>G"/>
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<coding>
<system value="http://loinc.org"/>
<code value="81258-6"/>
<display value="Sample VAF"/>
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<system value="http://loinc.org"/>
<code value="69547-8"/>
<display value="Genomic Ref allele [ID]"/>
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<valueString value="A"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="69551-0"/>
<display value="Genomic Alt allele [ID]"/>
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<valueString value="G"/>
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<coding>
<system value="http://loinc.org"/>
<code value="92822-6"/>
<display value="Genomic coord system"/>
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<coding>
<system value="http://loinc.org"/>
<code value="LA30100-4"/>
<display value="0-based interval counting"/>
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<coding>
<system value="http://loinc.org"/>
<code value="81254-5"/>
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<text value="Variant exact start-end"/>
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<value value="86852620"/>
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<component>
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<coding>
<system value="http://loinc.org"/>
<code value="92821-8"/>
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<text value="Population allele frequency"/>
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<value value="0.327084"/>
<system value="http://unitsofmeasure.org"/>
<code value="1"/>
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</Observation>