MII IG Kerndatensatz-Modul Molekulares Tumorboard
2026.0.0 - release Unknown region code '276'

MII IG Kerndatensatz-Modul Molekulares Tumorboard, published by Medizininformatik-Initiative. This guide is not an authorized publication; it is the continuous build for version 2026.0.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/medizininformatik-initiative/kerndatensatzmodul-molekulares-tumorboard/ and changes regularly. See the Directory of published versions

Example Observation: BRAF Variante

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Patient/example

value: Present

method: Sequencing

component

code: Chromosome [Identifier] in Blood or Tissue by Molecular genetics method

value: Chromosome 17

component

code: Gene studied [ID]

value: BRAF

component

code: Transcript reference sequence [ID]

value: NM_133433.4

component

code: DNA region name [Identifier]

value: Exon #15

component

code: DNA region name [Identifier]

value: Codon #582 - #612

component

code: Genomic allele start-end

value: 43044295-43125364

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: Discrete genetic variant

value: rs113488022