21653-1
CDH1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Active
Part Description
LP19682-1 CDH1 gene
The CDH1 gene (cadherin 1, type 1, E-cadherin (epithelial)) [HGNC Gene ID:1748] is located on chromosome 16q22.1. This gene is a classical cadherin from the cadherin superfamily. The encoded protein is a calcium dependent cell-cell adhesion glycoprotein comprised of five extracellular cadherin repeats, a transmembrane region and a highly conserved cytoplasmic tail. Mutations in this gene are correlated with gastric, breast, colorectal, thyroid and ovarian cancer. Loss of function is thought to contribute to progression in cancer by increasing proliferation, invasion, and/or metastasis. The ectodomain of this protein mediates bacterial adhesion to mammalian cells and the cytoplasmic domain is required for internalization. Identified transcript variants arise from mutation at consensus splice sites. [provided by RefSeq, Jul 2008] [NCBI Gene ID:999]
Source: National Center for Biotechnology Information (NCBI) Gene
Fully-Specified Name
- Component
- CDH1 gene mutations tested for
- Property
- Prid
- Time
- Pt
- System
- Bld/Tiss
- Scale
- Nom
- Method
- Molgen
Additional Names
- Short Name
- CDH1 gene Mut Tested Bld/T
- Display Name
- CDH1 gene mutations tested for Molgen Nom (Bld/Tiss)
- Consumer Name Alpha Get Info
- CDH1 gene variants tested for, Blood or tissue specimen
Basic Attributes
- Class
- MOLPATH.MUT
- Type
- Laboratory
- First Released
- Version 1.0m
- Last Updated
- Version 2.13
- Order vs. Observation
- Observation
Language Variants Get Info
Tag | Language | Translation |
---|---|---|
es-AR | Spanish (Argentina) | determinación de las mutaciones del gen CDH1: |
es-ES | Spanish (Spain) | Gen CDH1 Análisis de mutaciones para...: |
es-MX | Spanish (Mexico) | Mutaciones del gen CDH1 analizadas para: |
fr-FR | French (France) | CDH1 gène mutations recherchées: |
it-IT | Italian (Italy) | CDH1, gene, mutazioni testate per: Synonyms: Gene CDH1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & |
ko-KR | Korean (Korea, Republic Of) | CDH1 유전자 돌연변이 분석용: |
nl-NL | Dutch (Netherlands) | CDH1-gen geteste mutaties: Synonyms: CDH1 gen molgen |
pt-BR | Portuguese (Brazil) | CDH1 teste para mutação do gene: Synonyms: Cadherin 1; |
ru-RU | Russian (Russian Federation) | CDH1 ген мутации тестирован на: Synonyms: Кровь Кровь или Ткань Номинальный; |
tr-TR | Turkish (Turkey) | CDH1 geni mutasyonlar, test edilen: |
zh-CN | Chinese (China) | CDH1 基因 已测试的突变: Synonyms: CDHE; |
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=21653-1
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