41043-1
VHL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP31890-4 VHL gene
The VHL gene (von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase) [HGNC Gene ID:12687] is located on chromosome 3p25.3. Von Hippel-Lindau syndrome (VHL) is a dominantly inherited familial cancer syndrome predisposing to a variety of malignant and benign tumors. A germline mutation of this gene is the basis of familial inheritance of VHL syndrome. The protein encoded by this gene is a component of the protein complex that includes elongin B, elongin C, and cullin-2, and possesses ubiquitin ligase E3 activity. This protein is involved in the ubiquitination and degradation of hypoxia-inducible-factor (HIF), which is a transcription factor that plays a central role in the regulation of gene expression by oxygen. RNA polymerase II subunit POLR2G/RPB7 is also reported to be a target of this protein. Alternatively spliced transcript variants encoding distinct isoforms have been observed. [provided by RefSeq, Jul 2008] [NCBI Gene ID:7428]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- VHL gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Long Common Name
- VHL gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
- Short Name
- VHL gene Mut Anl Bld/T
- Display Name
- VHL gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- VHL 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
- 16534
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen VHL Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen VHL: |
| fr-FR | French (France) | VHL gène mutation cible trouvée: |
| it-IT | Italian (Italy) | VHL, gene analisi di mutazione mirata: Synonyms: Gene VHL Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | VHL 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | VHL-gen doelgerichte mutatie-analyse: Synonyms: molgen targeted VHL gen |
| pt-BR | Portuguese (Brazil) | VHL análise de mutação genética: Synonyms: von Hippel-Lindau syndrome; |
| ru-RU | Russian (Russian Federation) | VHL ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | VHL geni Mutasyon analizi: |
| zh-CN | Chinese (China) | VHL 基因 突变分析: Synonyms: VHL 综合征; |
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=41043-1
LOINC Copyright
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