minimal Common Oncology Data Elements (mCODE) Implementation Guide, published by HL7 International / Clinical Interoperability Council. This guide is not an authorized publication; it is the continuous build for version 4.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/fhir-mCODE-ig/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation gx-genomic-variant-somatic-polrmt
status: Final
category: Laboratory
code: Genetic variant assessment
subject: Adam Anyperson Male, DoB: 1990-01-01 ( Medical Record Number: 123456789)
effective: 2019-04-01
performer: Practitioner Owen Oncologist
value: Present
method: Sequencing
component
code: Gene studied [ID]
value: POLRMT
component
code: Genomic source class [Type]
value: Somatic
component
code: Molecular Consequence
value: missense_variant
component
code: Transcript reference sequence [ID]
value: NM_005035
component
code: DNA change (c.HGVS)
value: NM_005035.4:c.598G>A
component
code: Amino acid change (pHGVS)
value: NP_005026.3:p.(Gly200Arg)
component
code: Sample variant allelic frequency [NFr]
value: 75.6 % (Details: UCUM code% = '%')
component
code: Human reference sequence assembly version
value: GRCh37