41065-4
PTPN11 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP32678-2 PTPN11 gene
The PTPN11 gene (protein tyrosine phosphatase, non-receptor type 11) [HGNC Gene ID:9644] is located on chromosome 12q24. The protein encoded by this gene is a member of the protein tyrosine phosphatase (PTP) family. PTPs are known to be signaling molecules that regulate a variety of cellular processes including cell growth, differentiation, mitotic cycle, and oncogenic transformation. This PTP contains two tandem Src homology-2 domains, which function as phospho-tyrosine binding domains and mediate the interaction of this PTP with its substrates. This PTP is widely expressed in most tissues and plays a regulatory role in various cell signaling events that are important for a diversity of cell functions, such as mitogenic activation, metabolic control, transcription regulation, and cell migration. Mutations in this gene are a cause of Noonan syndrome as well as acute myeloid leukemia. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:5781]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- PTPN11 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- PTPN11 gene Mut Anl Bld/T
- Display Name
- PTPN11 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- PTPN11 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
- 19780
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen PTPN11 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutación dirigida al gen PTPN11: |
| fr-FR | French (France) | PTPN11 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | PTPN11, gene analisi di mutazione mirata: Synonyms: Gene PTPN11 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | PTPN11 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | PTPN11-gen doelgerichte mutatie-analyse: Synonyms: molgen PTPN11 gen targeted |
| pt-BR | Portuguese (Brazil) | PTPN11 análise de mutação genética: Synonyms: BPTP3; |
| ru-RU | Russian (Russian Federation) | PTPN11 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | PTPN11 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | PTPN11 基因 突变分析: Synonyms: BPTP3; |
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=41065-4
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