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 variant-with-molec-consequences
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Alanine B. Everyone Unknown, DoB: 1951-01-20 ( Medical Record Number: m234 (use: usual, ))
effective: 2023-06-01
performer: Organization Some lab
value: Present
component
code: Genomic source class
value: Germline
component
code: Genomic reference sequence ID
value: NC_000001.10
component
code: Allelic state
value: Heterozygous
component
code: Discrete genetic variant
value: NC_000001.10:g.86852621A>G
component
code: Sample VAF
value: 0.6 relative frequency of a particular allele in the specimen (Details: UCUM code1 = '1')
component
code: Genomic Ref allele [ID]
value: A
component
code: Genomic Alt allele [ID]
value: G
component
code: Genomic coord system
value: 0-based interval counting
component
code: Variant exact start-end
value: 86852620-?
component
code: Population allele frequency
value: 0.327084 1 (Details: UCUM code1 = '1')