96968-3
TNFAIP3 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP422648-8 TNFAIP3 gene
The TNFAIP3 gene, located on chromosome 6, encodes tumor necrosis factor (TNF) alpha-induced protein 3. TNF alpha-induced protein 3 is a ubiquitin-editing enzyme that is involved in cytokine-induced immune and inflammatory responses. Mutations in TNFAIP3 cause a familial, autosomal dominant Behcet-like autoinflammatory syndrome that is characterized by mucosal ulceration, rash, uveitis, and polyarthritis. [UniProt: P21580]
Source: Regenstrief LOINC
Fully-Specified Name
- Component
- TNFAIP3 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- TNFAIP3 Mut Anl Bld/T
- Display Name
- TNFAIP3 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- TNFAIP3 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.70
- Last Updated
- Version 2.70
- Order vs. Observation
- Both
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen TNFAIP3: |
es-ES | Spanish (Spain) | Gen TNFAIP3 Analisis de mutaciones: |
fr-FR | French (France) | TNFAIP3 gène mutation cible trouvée: |
it-IT | Italian (Italy) | TNFAIP3, gene analisi di mutazione mirata: Synonyms: Gene TNFAIP3 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
nl-NL | Dutch (Netherlands) | TNFAIP3-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted |
zh-CN | Chinese (China) | TNFAIP3 基因 突变分析: Synonyms: TNF Alpha Induced Protein 3 gene; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
Requests to this service require a free LOINC username and password. Below is a sample of the possible capabilities. See the LOINC Terminology Service documentation for more information.
- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=96968-3
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright