21698-6
HRAS gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19728-2 HRAS gene
The HRAS gene (Harvey rat sarcoma viral oncogene homolog) [HGNC Gene ID:5173] is located on chromosome 11p15.5. This gene belongs to the Ras oncogene family, whose members are related to the transforming genes of mammalian sarcoma retroviruses. The products encoded by these genes function in signal transduction pathways. These proteins can bind GTP and GDP, and they have intrinsic GTPase activity. This protein undergoes a continuous cycle of de- and re-palmitoylation, which regulates its rapid exchange between the plasma membrane and the Golgi apparatus. Mutations in this gene cause Costello syndrome, a disease characterized by increased growth at the prenatal stage, growth deficiency at the postnatal stage, predisposition to tumor formation, mental retardation, skin and musculoskeletal abnormalities, distinctive facial appearance and cardiovascular abnormalities. Defects in this gene are implicated in a variety of cancers, including bladder cancer, follicular thyroid cancer, and oral squamous cell carcinoma. Multiple transcript variants, which encode different isoforms, have been identified for this gene. [provided by RefSeq, Jul 2008] [NCBI Gene ID:3265]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- HRAS gene targeted mutation analysis
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- HRAS gene Mut Anl Bld/T
- Display Name
- HRAS gene targeted mutation analysis Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- HRAS gene targeted mutation analysis, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- 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
- 13684
Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| es-AR | Spanish (Argentina) | análisis de mutación del gen HRAS: |
| es-ES | Spanish (Spain) | Gen HRAS Analisis de mutaciones: |
| es-MX | Spanish (Mexico) | Análisis de mutaciones dirigidas al gen HRAS: |
| fr-FR | French (France) | HRAS gène mutation cible trouvée: |
| it-IT | Italian (Italy) | HRAS, gene analisi di mutazione mirata: Synonyms: Gene HRAS Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
| ko-KR | Korean (Korea, Republic Of) | HRAS 유전자 돌연변이 분석: |
| nl-NL | Dutch (Netherlands) | HRAS-gen doelgerichte mutatie-analyse: Synonyms: HRAS gen molgen targeted |
| pt-BR | Portuguese (Brazil) | HRAS análise de mutação genética: Synonyms: HRAS1; |
| ru-RU | Russian (Russian Federation) | HRAS ген исследование на мутацию: Synonyms: Кровь Кровь или Ткань Номинальный; |
| tr-TR | Turkish (Turkey) | HRAS geni Mutasyon analizi: |
| zh-CN | Chinese (China) | HRAS 基因 突变分析: Synonyms: Harvey 大鼠肉瘤病毒原癌基因; |
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=21698-6
LOINC Copyright
Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright