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: NIPBL 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: Melanie Marie Müller (official) Female, DoB: 2021-09-19 ( Krankenaktennummer (use: usual, ))

effective: 2022-03-16

value: Present

method: Sequencing

specimen: Specimen: identifier = https://www.charite.de/fhir/sid/bioproben#specimen_02; status = available; type = Blood specimen with edetic acid (specimen); receivedTime = 2021-11-24

device: Device: status = active; manufacturer = Illumina

component

code: Gene studied [ID]

value: NIPBL

component

code: Transcript reference sequence [ID]

value: NM_133433.4

component

code: DNA region name [Identifier]

value: Exon #10

component

code: DNA change (c.HGVS)

value: NM_133433.4:c.2207del

component

code: Amino acid change (pHGVS)

value: p.(Pro736Glnfs*58)

component

code: Allelic state

value: Heterozygous

component

code: DNA change type

value: Deletion

component

code: Cytogenetic (chromosome) location

value: 5p13.2

component

code: Discrete genetic variant

value: 1076298