Version 2.78

Part Description

LP19769-6   TP53 gene
The TP53 gene (tumor protein p53) [HGNC Gene ID:11998] is located on chromosome 17p13.1. This gene encodes a tumor suppressor protein containing transcriptional activation, DNA binding, and oligomerization domains. The encoded protein responds to diverse cellular stresses to regulate expression of target genes, thereby inducing cell cycle arrest, apoptosis, senescence, DNA repair, or changes in metabolism. Mutations in this gene are associated with a variety of human cancers, including hereditary cancers such as Li-Fraumeni syndrome. Alternative splicing of this gene and the use of alternate promoters result in multiple transcript variants and isoforms. Additional isoforms have also been shown to result from the use of alternate translation initiation codons (PMIDs: 12032546, 20937277). [provided by RefSeq, Feb 2013] [NCBI Gene ID:7157] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
TP53 gene deletion+duplication
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
TP53 gene deletion and duplication mutation analysis [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
TP53 gene Del+Dup Bld/T
Display Name
TP53 gene del and dup mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
TP53 gene deletion/duplication analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.DELDUP
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen TP53 Delección+duplicación:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Deleción + duplicación del gen TP53:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FR French (France) TP53 gène délétion+duplication:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) TP53, gene Delezione+duplicazione:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: delezione e duplicazione Delezione o duplicazione genica Gene Tp53 Genetica molecolare Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TP53-gen deletie + duplicatie:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen TP53 gen
ru-RU Russian (Russian Federation) TP53 ген делеция+дупликация:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) TP53 geni delesyon+duplikasyon:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
Synonyms: çiftleme
zh-CN Chinese (China) TP53 基因 缺失+重复: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: Li-Fraumeni 综合征;利弗劳梅尼综合征;家族性肿瘤综合征;细胞性肿瘤抗原 p53;细胞肿瘤抗原 p53;肿瘤蛋白 p53 全血或组织;血液/组织;血液或组织 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 基因复制;基因重复;重复 基因缺失（基因缺失、缺损、基因缺损、基因删除、删除、基因丢失）+重复（基因重复）;基因缺失+重复 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 染色体缺失;染色体区带缺失;基因缺失;缺损;基因缺损;基因删除;删除;基因丢失 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=96970-9