Version 2.77

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

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=104268-8