{ "resourceType" : "Observation", "id" : "STAG2-insertion-var", "meta" : { "profile" : ["http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/variant"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation STAG2-insertion-var

Profile: Variant

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Substance Junior Hamsburg (official) Male, DoB: 1987-09-01 ( Medical record number: 1234567\u00a0(use:\u00a0temp,\u00a0period:\u00a02021-01-01 --> (ongoing)))

effective: 2023-02-01

performer: Practitioner Test Dolin

value: Present

method: Sequencing

component

code: Amino acid change (pHGVS)

value: NP_006594.3:p.S1178*

component

code: Transcript reference sequence [ID]

value: NM_006603.5

component

code: Allelic read depth

value: 88 reads per base pair (Details: UCUM code1 = '1')

component

code: DNA change type

value: insertion

component

code: DNA change (c.HGVS)

value: NM_006603.5:c.3530_3531insGTGACTATTAATAT

component

code: Gene studied [ID]

value: STAG2

component

code: Genomic alt allele [ID]

value: GTGACTA

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome X

component

code: Genomic allele start-end

value: 123227930-123227930

component

code: Genomic reference sequence [ID]

value: NC_000023.10

component

code: Genomic DNA change (gHGVS)

value: NC_000023.10:g.123227930_123227931insGTGACTATTAATAT

component

code: Genomic source class [Type]

value: Somatic

component

code: Sample variant allelic frequency [NFr]

value: 0.08 decimal

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