Version 2.78

Part Description

LP19689-6   CTNNB1 gene
The CTNNB1 gene (catenin (cadherin-associated protein), beta 1, 88kDa) [HGNC Gene ID:2514] is located on chromosome 3p21. The protein encoded by this gene is part of a complex of proteins that constitute adherens junctions (AJs). AJs are necessary for the creation and maintenance of epithelial cell layers by regulating cell growth and adhesion between cells. The encoded protein also anchors the actin cytoskeleton and may be responsible for transmitting the contact inhibition signal that causes cells to stop dividing once the epithelial sheet is complete. Finally, this protein binds to the product of the APC gene, which is mutated in adenomatous polyposis of the colon. Mutations in this gene are a cause of colorectal cancer (CRC), pilomatrixoma (PTR), medulloblastoma (MDB), and ovarian cancer. Three transcript variants encoding the same protein have been found for this gene.[provided by RefSeq, Oct 2009] [NCBI Gene ID:1499] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
CTNNB1 gene mutations tested for
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
CTNNB1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
CTNNB1 gene Mut Tested Bld/T
Display Name
CTNNB1 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CTNNB1 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 CTNNB1:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES Spanish (Spain) Gen CTNNB1 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Mutaciones del gen CTNNB1 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) CTNNB1 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CTNNB1, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CTNNB1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR Korean (Korea, Republic Of) CTNNB1 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL Dutch (Netherlands) CTNNB1-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CTNNB1 gen molgen
pt-BR Portuguese (Brazil) CTNNB1 teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Colorectal cancer; Hepatoblastoma; Pilomatricoma; Cadherin associated protein beta gene; CTNNB; Beta-catenin gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CTNNB1 ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CTNNB1 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN Chinese (China) CTNB1 基因 已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Beta-catenin 基因;Beta-连环素基因;Beta-链接素基因;CTNNB;β-catenin 基因;β-连环素基因;β-链接素基因;大肠癌;毛基质瘤;毛母质瘤;结直肠癌;结肠直肠癌;肝母细胞瘤;肝胚细胞瘤;钙依赖粘附素相关蛋白 Beta 基因;钙依赖粘附素相关蛋白β基因;钙化上皮瘤;钙粘素相关蛋白 Beta 基因;钙粘素相关蛋白β基因;钙粘附素相关蛋白 Beta 基因;钙粘附素相关蛋白β基因;钙粘附蛋白相关蛋白 Beta 基因;钙粘附蛋白相关蛋白β基因 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 存在;存在与否;特征标识;身份;身份标识 已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的 已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 突变 突变类;基因突变 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21660-6