104268-8
UBA1 gene mutation in Specimen by Molecular genetics method
Active
Part Description
LP437608-5 UBA1 gene mutation
UBA1 gene provides instructions for making the ubiquitin-activating enzyme E1. This enzyme is necessary for the ubiquitin-proteasome system, which targets damaged or unneeded proteins to be broken down within cells.
Source: Medline Plus,
Fully-Specified Name
- Component
- UBA1 gene mutation
- Property
- Find
- Time
- Pt
- System
- XXX
- Scale
- Doc
- Method
- Molgen
Additional Names
- Short Name
- UBA1 mut Spec
- Display Name
- UBA1 gene mutation Molgen Doc (Specimen)
- Consumer Name Alpha Get Info
- UBA1 gene mutation, Specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.77
- Last Updated
- Version 2.77
- Order vs. Observation
- Order
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Mutación del gen UBA1: |
| it-IT | Italian (Italy) | UBA1, mutazione del gene: Synonyms: Genetica molecolare Mutazione del gene UBA1 Mutazione genica Osservazione Patologia molecolare Punto nel tempo (episodio) |
| nl-NL | Dutch (Netherlands) | UBA1-genmutatie: Synonyms: molgen |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=104268-8
LOINC Copyright
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