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: mii-exa-molgen-variante-srcc-ctnna1

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: Anonymous Patient Male, DoB: 1986-01 ( pseudonymized (use: usual, ))

effective: 2022-11-30

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#00070024; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2022-11-30

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: CTNNA1

component

code: Transcript reference sequence [ID]

value: NM_001903.5

component

code: DNA change (c.HGVS)

value: NM_001903.5:c.1030del

component

code: Genomic DNA change (gHGVS)

value: NC_000005.9:g.138163372del

component

code: Genomic reference sequence [ID]

value: NC_000005.9

component

code: Amino acid change (pHGVS)

value: p.(Leu344CysfsTer25)

component

code: Allelic state

value: Heterozygous

component

code: DNA change type

value: Deletion

component

code: Cytogenetic (chromosome) location

value: 5q31.2