LOINC
Version 2.72

100021-5GNAQ gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265702-3   GNAQ gene
The GNAQ (G protein subunit alpha q) gene [HGNC Gene ID:4390] is located on chromosome 9 at 9q21.2. This gene encodes a guanine nucleotide-binding protein. The encoded protein, an alpha subunit in the Gq class, couples a seven-transmembrane domain receptor to activation of phospolipase C-beta. Mutations at this locus have been associated with problems in platelet activation and aggregation. A related pseudogene exists on chromosome 2.[provided by RefSeq, Nov 2010] [NCBI Gene ID:2776] Somatic mutations in GNAQ have been found in approximately 50% of uveal melanomas, with the majority at codon 209 (Q209) within exon 5 of the gene.[PMID:21083380] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
GNAQ gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
GNAQ gene Mut Anl Bld/T
Display Name
GNAQ gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
GNAQ gene variant analysis, Blood or tissue specimen

Example Answer List LL744-4

Source: Regenstrief Institute

Answer Code Score Answer ID
Detected LA11882-0
Not detected LA11883-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.72
Last Updated
Version 2.72
Order vs. Observation
Both

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100021-5