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 NOTCH1-uncertain-var
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
effective: 2023-02-01
performer: Practitioner Test Dolin
value: Present
method: Sequencing
component
code: Amino acid change (pHGVS)
value: NP_060087.3:p.A1931T
component
code: Transcript reference sequence [ID]
value: NM_017617.5
component
code: Allelic read depth
value: 221 reads per base pair (Details: UCUM code1 = '1')
component
code: DNA change (c.HGVS)
value: NM_017617.5:c.5791G>A
component
code: Gene studied [ID]
value: NOTCH1
component
code: Genomic alt allele [ID]
value: T
component
code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method
value: Chromosome 9
component
code: Genomic allele start-end
value: 139395147-139395147
component
code: Genomic reference sequence [ID]
value: NC_000009.11
component
code: Genomic ref allele [ID]
value: C
component
code: Genomic DNA change (gHGVS)
value: NC_000009.11:g.139395147C>T
component
code: Genomic source class [Type]
value: Somatic
component
code: Sample variant allelic frequency [NFr]
value: 0.15 decimal