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Generated Narrative: Observation
Resource Observation "gx-genomic-variant-somatic-pof1b"
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: POF1B (HUGO Gene Nomenclature Committee Genes#HGNC:13711; gene#79983)
component
code: 48002-0 (LOINC#48002-0)
value: Somatic (LOINC#LA6684-0)
component
code: Molecular Consequence (To Be Determined Codes#molecular-consequence)
value: missense_variant (#SO:0001583)
component
code: 51958-7 (LOINC#51958-7)
value: NM_004656 (Gene Reference Sequence Collection#NM_004656)
component
code: 48004-6 (LOINC#48004-6)
value: NM_001307940.2:c.430C>T (Human Genome Variation Society nomenclature#NM_001307940.2:c.430C>T)
component
code: 48005-3 (LOINC#48005-3)
value: NP_001294869.1:p.(Pro144Ser) (Human Genome Variation Society nomenclature#NP_001294869.1:p.(Pro144Ser))
component
code: 81258-6 (LOINC#81258-6)
value: 78.6 % (Details: UCUM code % = '%')
component
code: 62374-4 (LOINC#62374-4)
value: GRCh37 (LOINC#LA14029-5)