Generated Narrative with Details

id: SNVexample

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: Genetic variant assessment (Details : {LOINC code '69548-6' = 'Genetic variant assessment', given as 'Genetic variant assessment'})

value: Present (Details : {LOINC code 'LA9633-4' = 'Present', given as 'Present'})

method: Sequencing (Details : {LOINC code 'LA26398-0' = 'Sequencing', given as 'Sequencing'})

specimen:

component

code: Gene studied ID (Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied ID'})

value: AR (Details : {http://www.genenames.org/geneId code 'HGNC:644' = 'HGNC:644', given as 'AR'})

component

code: Cytogenetic (chromosome) location (Details : {LOINC code '48001-2' = 'Cytogenetic (chromosome) location', given as 'Cytogenetic (chromosome) location'})

value: chrX (Details )

component

code: Human reference sequence assembly version (Details : {LOINC code '62374-4' = 'Human reference sequence assembly version', given as 'Human reference sequence assembly version'})

value: GRCh37 (Details : {LOINC code 'LA14029-5' = 'GRCh37', given as 'GRCh37'})

component

code: Genomic source class (Details : {LOINC code '48002-0' = 'Genomic source class [Type]', given as 'Genomic source class'})

value: Somatic (Details : {LOINC code 'LA6684-0' = 'Somatic', given as 'Somatic'})

component

code: Amino acid change (pHGVS) (Details : {LOINC code '48005-3' = 'Amino acid change (pHGVS)', given as 'Amino acid change (pHGVS)'})

value: p.(Ala412Val) (Details : {http://varnomen.hgvs.org code 'p.(Ala412Val)' = 'p.(Ala412Val)', given as 'p.(Ala412Val)'})

component

code: Amino acid change type (Details : {LOINC code '48006-1' = 'Amino acid change [Type]', given as 'Amino acid change type'})

value: Missense (Details : {LOINC code 'LA6698-0' = 'Missense', given as 'Missense'})

component

code: Transcript reference sequence [ID] (Details : {LOINC code '51958-7' = 'Transcript reference sequence [ID]', given as 'Transcript reference sequence [ID]'})

value: NM_000044.3 (Details : {http://www.ncbi.nlm.nih.gov/refseq code 'NM_000044.3' = 'NM_000044.3', given as 'NM_000044.3'})

component

code: Sample variant allelic frequency [NFr] (Details : {LOINC code '81258-6' = 'Sample variant allelic frequency [NFr]', given as 'Sample variant allelic frequency [NFr]'})

value: 0.44 decimal

component

code: Allelic read depth (Details : {LOINC code '82121-5' = 'Allelic read depth', given as 'Allelic read depth'})

value: 120 reads per base pair (Details: UCUM code {reads}/{base} = '{reads}/{base}')