LOINC
Version 2.72

100024-9SETBP1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP265716-3   SETBP1 gene
The SETBP1 gene (SET binding protein 1) [HGNC Gene ID:15573] is located on chromosome 18q12.3. This gene encodes a protein which contains several motifs including a ski homology region and a SET-binding region in addition to three nuclear localization signals. The encoded protein has been shown to bind the SET nuclear oncogene which is involved in DNA replication. Mutations in this gene are associated with Schinzel-Giedion midface retraction syndrome. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011] [NCBI Gene ID:26040] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SETBP1 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
SETBP1 gene Mut Anl Bld/T
Display Name
SETBP1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
SETBP1 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=100024-9