Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions
Generated Narrative: Observation RepeatExpansion
status: Final
category: Laboratory, Genetics
code: Genetic variant assessment
subject: Anonymous Patient (no stated gender), DoB Unknown
effective: 2023-06-01
performer: Organization Some lab
value: Present
component
code: Gene studied ID
value: PABPN1
component
code: Cytogenetic (chromosome) location
value: chr14
component
code: Transcript reference sequence [ID]
value: NM_004643.4
component
code: DNA change (c.HGVS)
value: NM_004643.3:c.3GGC[14]
component
code: Genomic allele start-end
value: 3-?
component
code: Discrete genetic variant
value: NM_004643.3(PABPN1):c.3GGC[11] (p.Ala11_Gly12insAlaAlaAlaAla)
component
Repeat Motif Order: 1
code: Repeat Expansion Motif
value: GGC
component
Repeat Motif Order: 1
code: Number of Repeat Expansions
value: 11