FHIR Osiris Implementation Guide
1.1.0 - trial-implementation

Publication Build: This will be filled in by the publication tooling

## Example Observation: fhir-osiris-annotation-1

Generated Narrative: Observation fhir-osiris-annotation-1

Profil: Variant Annotation

status: Final

category: Laboratory

code: Genetic variant assessment

subject: Patient Anonyme Male, Date de Naissance :1967-11-08

value: Present

hasMember:

- MolecularSequence : extension = C0439673; coordinateSystem = 0
- MolecularSequence : coordinateSystem = 0

derivedFrom: Observation Genetic variant assessment

> component

> code: DNA change type

> value: O15-4

> component

> code: Gene studied [ID]

> value: PI3K

> component

> code: Prediction software

> value: SIFT

> component

> code: Prediction of the variation effect over the protein

> value: 0.35

> component

> code: Confidence score

> value: Deleterious

> component

> code: Cytogenetic (chromosome) location

> value: exon 2

> component

> code: Amino acid change (pHGVS)

> value: p.E542K

> component

> code: Amino acid change [Type]

> value: Missense

> component

> code: Genomic DNA change (gHGVS)

> value: C0439673

> component

> code: DNA change (c.HGVS)

> value: c.1624G>A

> component

> code: Incidence on the transcript

> value: C0439673