MII Implementierungsleitfaden Kerndatensatz-Modul Molekulargenetischer Befundbericht
2027.0.0-ballot.1 - Germany

MII IG Kerndatensatz-Modul Molekulargenetischer Befundbericht - Downloaded Version 2027.0.0-ballot.1 See the Directory of published versions

Beispiel Observation: BRAF Variante

German

Profiles: MII PR MolGen Variante version: 2027.0.0-ballot.1, Variant version: 3.0.0

basedOn: ServiceRequest Molecular genetic test (procedure)

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Maja Julia Van-der-Dussen (official) Female, DoB: 1968-09-19 ( Krankenaktennummer (use: usual, ))

effective: 2022-04-07

value: Present

method: Sequencing

specimen: Specimen: identifier = https://biobank.uk-musterstadt.de/fhir/sid/proben#5432; status = available; type = Tissue specimen from colon (specimen)

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: BRAF

component

code: Genomic reference sequence [ID]

value: NM_004333.4

component

code: DNA region name [Identifier]

value: Exon #15

component

code: DNA region name [Identifier]

value: Codon #582 - #612

component

code: DNA change (c.HGVS)

value: NM_004333.4:c.1799T>A

component

code: Amino acid change (pHGVS)

value: p.(Val600Glu)

component

code: Sample variant allelic frequency [NFr]

value: 30.25 % (Details: UCUM code% = '%')

component

code: Cytogenetic (chromosome) location

value: 7q34

component

code: DNA change type

value: point_mutation

component

code: Discrete genetic variant

value: rs113488022