This page is part of the HL7 FHIR Implementation Guide: minimal Common Oncology Data Elements (mCODE) Release 1 - US Realm | STU1 (v4.0.0-ballot: STU4 Ballot 1) based on FHIR (HL7® FHIR® Standard) R4. The current version which supersedes this version is 3.0.0. For a full list of available versions, see the Directory of published versions
Generated Narrative: Observation
Resource Observation "gx-genomic-variant-somatic-pof1b"
Profile: Genomic Variant Profile
status: final
category: Laboratory (Observation Category Codes#laboratory)
code: Genetic var assess (LOINC#69548-6)
subject: Patient/gx-cancer-patient-adam-anyperson " ANYPERSON"
effective: 2019-04-01
performer: Practitioner/us-core-practitioner-owen-oncologist " ONCOLOGIST"
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: Gene studied ID (LOINC#48018-6)
value: POF1B (HUGO Gene Nomenclature Committee Genes#HGNC:13711; gene#79983)
component
code: Genomic source class (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)
component
code: Molecular Consequence (To Be Determined Codes#molecular-consequence)
value: missense_variant (#SO:0001583)
component
code: Transcript ref sequence ID (LOINC#51958-7)
value: NM_004656 (Gene Reference Sequence Collection#NM_004656)
component
code: DNA change (LOINC#48004-6)
value: NM_001307940.2:c.430C>T (Human Genome Variation Society nomenclature#NM_001307940.2:c.430C>T)
component
code: Amino acid change (LOINC#48005-3)
value: NP_001294869.1:p.(Pro144Ser) (Human Genome Variation Society nomenclature#NP_001294869.1:p.(Pro144Ser))
component
code: Sample VAF (LOINC#81258-6)
value: 78.6 % (Details: UCUM code % = '%')
component
code: Human ref seq assembly+build (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)