Kerndatensatz Senologie
0.9.0 - ci-build
Kerndatensatz Senologie - Local Development build (v0.9.0) built by the FHIR (HL7® FHIR® Standard) Build Tools. See the Directory of published versions
Profile: MII PR Onkologie Genetische Variante
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Christina Becker Female, DoB: 1982-12-14 ( http://fhir.bih-charite.de/sid/patient-id#SENO-2025-010)
effective: 2025-03-15
value: Present
interpretation: Mutation
component
code: Gene studied [ID]
value: PALB2
component
code: Genomic source class [Type]
value: Germline
component
code: DNA change (c.HGVS)
value: PALB2 c.509_510del
component
code: Amino acid change (p.HGVS)
value: PALB2 p.(Arg170Ilefs*14)