42780-7
CCND1 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP36229-0 CCND1 gene
The CCND1 gene (cyclin D1) [HGNC Gene ID:1582] is located on chromosome 11q13. The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance throughout the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin forms a complex with and functions as a regulatory subunit of CDK4 or CDK6, whose activity is required for cell cycle G1/S transition. This protein has been shown to interact with tumor suppressor protein Rb and the expression of this gene is regulated positively by Rb. Mutations, amplification and overexpression of this gene, which alters cell cycle progression, are observed frequently in a variety of tumors and may contribute to tumorigenesis. [provided by RefSeq, Jul 2008] [NCBI Gene ID:595]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CCND1 gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CCND1 gene Mut Anl Bld/T
- Display Name
- CCND1 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CCND1 gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 2.16
- Last Updated
- Version 2.63
- 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
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-ES | Spanish (Spain) | Gen CCND1 Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen CCND1: |
| fr-FR | French (France) | CCND1 gène mutation cible trouvée: |
| it-IT | Italian (Italy) | CCND1, gene analisi di mutazione mirata: Synonyms: Gene CCND1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | CCND1 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | CCND1-gen doelgerichte mutatie-analyse: Synonyms: CCND1 gen molgen targeted |
| pt-BR | Portuguese (Brazil) | CCND1 análise de mutação genética: Synonyms: Lymphoma 1; |
| ru-RU | Russian (Russian Federation) | CCND1 ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | CCND1 geni Mutasyon analizi: |
| zh-CN | Chinese (China) | CCND1 基因 突变分析: Synonyms: B 细胞 CLL; |
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=42780-7
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