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Generated Narrative: Observation
Resource Observation "gx-genomic-variant-somatic-bap1-indel"
Profile: Genomic Variant Profile
status: final
category: Laboratory (Observation Category Codes#laboratory)
code: 69548-6 (LOINC#69548-6)
subject: Patient/gx-cancer-patient-adam-anyperson " ANYPERSON"
effective: 2019-04-01
performer: Practitioner/us-core-practitioner-owen-oncologist " ONCOLOGIST"
value: Present (LOINC#LA9633-4)
method: Sequencing (LOINC#LA26398-0)
component
code: 48018-6 (LOINC#48018-6)
value: BAP1 (HUGO Gene Nomenclature Committee Genes#HGNC:950; gene#3815)
component
code: 51958-7 (LOINC#51958-7)
value: NM_004656.4 (Gene Reference Sequence Collection#NM_004656)
component
code: 48004-6 (LOINC#48004-6)
value: NC_000003.11(NM_004656.4):c.1768C>T (Human Genome Variation Society nomenclature#NM_004656.4:c.1768C>T)
component
code: 48005-3 (LOINC#48005-3)
value: NP_004647.1:p.(Gln590Ter) (Human Genome Variation Society nomenclature#NP_004647.1:p.(Gln590Ter))
component
code: 48002-0 (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)
component
code: 81258-6 (LOINC#81258-6)
value: 57.4 % (Details: UCUM code % = '%')
component
code: Molecular Consequence (To Be Determined Codes#molecular-consequence)
value: stop_gained (#SO:0001587)
component
code: 62374-4 (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)