LOINC
Version 2.72

100020-7GNA11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265701-5   GNA11 gene
The GNA11 (G protein subunit alpha 11) gene [HGNC Gene ID:4379] is located on chromosome 19 at 19p13.3. The protein encoded by this gene belongs to the family of guanine nucleotide-binding proteins (G proteins), which function as modulators or transducers in various transmembrane signaling systems. G proteins are composed of 3 units: alpha, beta and gamma. This gene encodes one of the alpha subunits (subunit alpha-11). Mutations in this gene have been associated with hypocalciuric hypercalcemia type II (HHC2) and hypocalcemia dominant 2 (HYPOC2). Patients with HHC2 and HYPOC2 exhibit decreased or increased sensitivity, respectively, to changes in extracellular calcium concentrations.[provided by RefSeq, Dec 2013] [NCBI Gene ID:2767] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
GNA11 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
GNA11 gene Mut Anl Bld/T
Display Name
GNA11 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
GNA11 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=100020-7