{ "resourceType" : "Observation", "id" : "obs-variant-min", "meta" : { "profile" : ["http://example.org/StructureDefinition/Observation-variant-twngs"] }, "text" : { "status" : "generated", "div" : "

Generated Narrative: Observation obs-variant-min

Profile: 短序列DNA變異資訊-Observation Variant TWNGS

status: Final

code: Genetic variant assessment

subject: 王大明 Male, DoB: 2001-01-01 ( Medical record number\u00a0(use:\u00a0official,\u00a0))

effective: 2024-01-01

specimen: Specimen: identifier = 123-4567; type = Bld

device: Device: modelNumber = HiSeq 4000 System

derivedFrom: DocumentReference: status = current

component

code: 轉錄本資料庫名稱

value: RefSeq

component

code: 轉錄本參考資料庫版本

value: 115

component

code: Transcript reference sequence [ID]

value: NM_000038.6

component

code: DNA change (c.HGVS)

value: c.4393_4394del

component

code: Gene studied [ID]

value: APC

component

code: Amino acid change (pHGVS)

value: p.Ser1465fs

component

code: Sample variant allelic frequency [NFr]

value: 48.9 % (Details: UCUM code% = '%')

component

code: DNA change type

value: Deletion

component

code: Genomic reference sequence [ID]

value: NC_000005.10

component

code: Genomic DNA change (gHGVS)

value: g.112839979_112839980del

component

code: 蛋白質參考序列編號

value: NP_000029.2

component

code: 胺基酸變異類型

value: Frameshift

component

code: Allelic read depth

value: 440

component

code: 變異區測序總讀數

value: 900

" }, "status" : "final", "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "69548-6" }] }, "subject" : { "reference" : "Patient/pat-min" }, "effectiveDateTime" : "2024-01-01", "specimen" : { "reference" : "Specimen/spe-bld-min" }, "device" : { "reference" : "Device/dev-min" }, "derivedFrom" : [{ "reference" : "DocumentReference/doc-gene-min" }], "component" : [{ "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "transcriptDB" }] }, "valueString" : "RefSeq" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "transcriptDBVersion" }] }, "valueString" : "115" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "51958-7" }] }, "valueString" : "NM_000038.6" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48004-6" }] }, "valueString" : "c.4393_4394del" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48018-6" }] }, "valueString" : "APC" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48005-3" }] }, "valueString" : "p.Ser1465fs" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81258-6" }] }, "valueQuantity" : { "value" : 48.9, "unit" : "%", "system" : "http://unitsofmeasure.org", "code" : "%" } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48019-4" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA6692-3" }] } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "48013-7" }] }, "valueString" : "NC_000005.10" }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "81290-9" }] }, "valueString" : "g.112839979_112839980del" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "proteinRefId" }] }, "valueString" : "NP_000029.2" }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "aminoAcidChangeType" }] }, "valueCodeableConcept" : { "coding" : [{ "system" : "http://loinc.org", "code" : "LA6694-9" }] } }, { "code" : { "coding" : [{ "system" : "http://loinc.org", "code" : "82121-5" }] }, "valueQuantity" : { "value" : 440 } }, { "code" : { "coding" : [{ "system" : "http://example.org/CodeSystem/genomic-variant-cs", "code" : "totalReadDepth" }] }, "valueQuantity" : { "value" : 900 } }] }