Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation
Resource Observation "NTHL1-snv-var"
Profile: Variant
status: final
category: Laboratory (Observation Category Codes#laboratory), Genetics (diagnosticServiceSectionId#GE)
code: Genetic var assess (LOINC#69548-6)
subject: Patient/somaticPatient " HAMSBURG"
effective: 2023-02-01
performer: Practitioner/pathologistPractitioner " DOLIN"
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: Amino acid change (LOINC#48005-3)
value: NP_002519.2:p.Trp243Ter (Human Genome Variation Society nomenclature#NP_002519.2:p.Trp243Ter)
component
code: DNA Change Type (LOINC#48019-4)
value: SNV (sequenceontology.org#SO:0001483)
component
code: DNA change (LOINC#48004-6)
value: NM_002528.7:c.728G>A (Human Genome Variation Society nomenclature#NM_002528.7:c.728G>A)
component
code: Gene studied ID (LOINC#48018-6)
value: NTHL1 (HUGO Gene Nomenclature Committee Genes#HGNC:8028)
component
code: Simple var ID (LOINC#81252-9)
value: NM_002528.7(NTHL1):c.728G>A (p.Trp243Ter) (ClinVar Variant ID#962538)
component
code: Struct var HGVS name (LOINC#81290-9)
value: NC_000016.10:g.2040196C>T (Human Genome Variation Society nomenclature#NC_000016.10:g.2040196C>T)
component
code: Genomic source class (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)