LOINC
Version 2.72

100027-2SMAD4 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method NominalActive

Part Description

LP190792-4   SMAD4 gene
The SMAD4 gene (SMAD family member 4) [HGNC Gene ID:6770] is located on chromosome 18q21.1. This gene encodes a member of the Smad family of signal transduction proteins. Smad proteins are phosphorylated and activated by transmembrane serine-threonine receptor kinases in response to TGF-beta signaling. The product of this gene forms homomeric complexes and heteromeric complexes with other activated Smad proteins, which then accumulate in the nucleus and regulate the transcription of target genes. This protein binds to DNA and recognizes an 8-bp palindromic sequence (GTCTAGAC) called the Smad-binding element (SBE). The Smad proteins are subject to complex regulation by post-translational modifications. Mutations or deletions in this gene have been shown to result in pancreatic cancer, juvenile polyposis syndrome, and hereditary hemorrhagic telangiectasia syndrome. [provided by RefSeq, Oct 2009] [NCBI Gene ID:4089] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
SMAD4 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
SMAD4 gene Mut Anl Bld/T
Display Name
SMAD4 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha
SMAD4 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

Language Variants Get Info

zh-CNChinese (China)
SMAD4 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
nl-NLDutch (Netherlands)
SMAD4-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
it-ITItalian (Italy)
SMAD4, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
es-ESSpanish (Spain)
Gen SMAD4 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
tr-TRTurkish (Turkey)
SMAD4 geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen

LOINC FHIR® API Example - CodeSystem Request Get Info

https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=100027-2