MII IG Kerndatensatz-Modul Molekulares Tumorboard
2027.0.0-ballot.1 - Germany

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Beispiel Observation: BRAF Variante

German

Profile: MII PR MTB Einfache Variante version: 2027.0.0-ballot.1

status: Final

category: Laboratory, Genetik

code: Genetic variant assessment

subject: Maxim Muster (no stated gender), DoB Unknown

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: NP_004324.2:p.(Val600Glu)

component

code: Sample variant allelic frequency [NFr]

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

component

code: Discrete genetic variant

value: rs113488022