status: Final

code: Genetic variant assessment

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

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