FHIR IG analytics| Package | fhir.nwgenomics.nhs.uk |
| Resource Type | Observation |
| Id | Observation-ctdna9737383222-icnv1.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: Observation ctdna9737383222-icnv1
Profile: Variant (Observation)
identifier: ctdna9737383222-icnv1
status: Final
category: Genetics, Laboratory
code: Genetic variant assessment
subject: Rob LEEDS (official) Male, DoB: 1978-01-17 ( Medical record number: L765432)
effective: 2026-07-14 15:59:16+0000
performer: Result INTERPRETER at North West Genomics
value: Present
method: Sequencing
component
code: Variant category
value: Intragenic Copy Number Variant
component
code: Gene studied [ID]
value: FBN1
component
code: Genomic source class [Type]
value: Germline
component
code: Genomic reference sequence [ID]
value: NC_000015.9
component
code: Genomic coordinate system [Type]
value: 1-based character counting
component
code: Genomic ref allele [ID]
value: C
component
code: Genomic alt allele [ID]
value: <DEL>
component
code: DNA change type
value: copy_number_variation
component
code: Transcript reference sequence [ID]
value: NM_000138.4
component
code: DNA change (c.HGVS)
value: NM_000138.4(FBN1):exon13_to_exon15del
component
code: Genomic DNA change (gHGVS)
value: g.48797222_48802366del
component
code: Genetic variation clinical significance [Imp]
value: Pathogenic
component
code: Origin of germline genetic variant [Type]
value: Maternal
component
code: Structural variant inner start and end
value: 48797221-48802366
component
code: Sample variant allelic frequency [NFr]
value: 0.33 decimal
component
code: Genomic structural variant copy number
value: 1 1 (Details: UCUM code1 = '1')
FHIR
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