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
LOINC Copyright
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