Release 4B R5 Final QA

This page is part of the FHIR Specification (v4.3.0: R4B (v5.0.0-draft-final: Final QA Preview for R5 - STU see ballot notes ). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions . Page versions: R5 R4B R4

Sequence-genetics-example-breastcancer

Example MolecularSequence/breastcancer (Narrative)

Clinical Genomics Work Group Maturity Level : N/A Standards Status : Informative Compartments : Patient

This is the narrative for the resource. See also the XML , JSON or Turtle format. This example conforms to the profile MolecularSequence .

Generated Narrative Narrative: MolecularSequence

Resource MolecularSequence "breastcancer"

type : rna

coordinateSystem subject : 0 Patient/brcapat

relative

patient coordinateSystem : Patient/brcapat 0-based interval counting ( LOINC #LA30100-4)

ReferenceSeqs StartingSequences

- ReferenceSeqId Sequence[x] WindowStart WindowEnd
* Homo sapiens BRCA2, DNA repair associated (BRCA2), mRNA (#NM_000059.3) 101488058 101499444

Variants Edits

- Start End ObservedAllele ReplacementSequence ReferenceAllele ReplacedSequence
* 32316186 32316187 A C

 

 

Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.