41058-9
SH2D1A gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP33341-6 SH2D1A gene
The SH2D1A gene (SH2 domain containing 1A) [HGNC Gene ID:10820] is located on chromosome Xq25. This gene encodes a protein that plays a major role in the bidirectional stimulation of T and B cells. This protein contains an SH2 domain and a short tail. It associates with the signaling lymphocyte-activation molecule, thereby acting as an inhibitor of this transmembrane protein by blocking the recruitment of the SH2-domain-containing signal-transduction molecule SHP-2 to its docking site. This protein can also bind to other related surface molecules that are expressed on activated T, B and NK cells, thereby modifying signal transduction pathways in these cells. Mutations in this gene cause lymphoproliferative syndrome X-linked type 1 or Duncan disease, a rare immunodeficiency characterized by extreme susceptibility to infection with Epstein-Barr virus, with symptoms including severe mononucleosis and malignant lymphoma. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4068]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- SH2D1A gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- SH2D1A gene Mut Anl Bld/T
- Display Name
- SH2D1A gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- SH2D1A gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.15
- Last Updated
- Version 2.73
- Change Reason
- Based on LOINC Committee review (June 2016), "targeted" was added to the Component to clarify that this test is looking for a specific set of mutations as described in the LOINC User Guide under the Molecular Genetics section.
- Order vs. Observation
- Both
- Common Test Rank Get Info
- 18477
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen SH2D1A Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen SH2D1A: |
| fr-FR | French (France) | SH2D1A gène mutation cible trouvée: |
| it-IT | Italian (Italy) | SH2D1A, gene analisi di mutazione mirata: Synonyms: Gene SH2D1A Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | SH2D1A 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | SH2D1A-gen doelgerichte mutatie-analyse: Synonyms: molgen SH2D1A gen targeted |
| pt-BR | Portuguese (Brazil) | SH2D1A análise de mutação genética: Synonyms: DSHP; |
| ru-RU | Russian (Russian Federation) | SH2D1A ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | SH2D1A geni Mutasyon analizi: |
| zh-CN | Chinese (China) | SH2D1A 基因 突变分析: Synonyms: DSHP; |
LOINC Terminology Service (API) using HL7® FHIR® Get Info
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- CodeSystem lookup
- https:
//fhir.loinc.org/CodeSystem/$lookup?system=http: //loinc.org&code=41058-9
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