MII IG Kerndatensatz-Modul Seltene Erkrankungen
2027.0.0-ballot - Germany

MII IG Kerndatensatz-Modul Seltene Erkrankungen - Downloaded Version 2027.0.0-ballot See the Directory of published versions

Beispiel Observation: PAH c.1222C>T - MolGen Variante

German

status: Final

category: Laboratory

code: Genetic variant assessment

subject: Max Mustermann (official) Male, DoB: 1990-01-01 ( http://test-krankenhaus.de/fhir/sid/patienten#12345)

effective: 2024-08-25

value: Positive

note:

Homozygote pathogene PAH-Variante. Klassische Phenylketonurie; diaetetische Therapie indiziert.

component

code: Gene studied [ID]

value: PAH

component

code: Genomic source class

value: Germline

component

code: DNA change (c.HGVS)

value: c.1222C>T

component

code: Amino acid change (pHGVS)

value: p.Arg408Trp

component

code: Allelic state

value: Homozygous

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic