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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