Version 2.77

Part Description

LP422605-8   CD79A gene
The CD79A and CD79B genes, located on chromosomes 19 and 17, respectively, encode the alpha and beta chains of the B-cell antigen receptor complex-associated protein. When an antigen binds to the B-cell antigen receptor (BCR) complex, the B-cell antigen receptor complex-associated protein initiates a signal transduction cascade that results in internalization of the BCR complex, transport to late endosomes, and antigen presentation. The alpha chain also plays a role in cell surface expression of the BCR and differentiation of pro- and pre-B-cells. Two different CD79A mutations that lead to a truncated alpha chain are associated with agammaglobulinemia 3, an autosomal recessive disease associated with low or absent serum antibodies and circulating B-cells that is characterized by severe infections early in childhood. [UniProt: P11912] [UniProt: P40259] Source: Regenstrief LOINC

Fully-Specified Name

Component
CD79A gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
CD79A Mut Anl Bld/T
Display Name
CD79A gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CD79A gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
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 CD79A Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen CD79A:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FR French (France) CD79A gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) CD79A, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) CD79A-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) CD79A 基因 突变分析: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: CD79a Molecule gene;CD79a 分子基因 Ig alpha Ig α MB1 免疫球蛋白 alpha 免疫球蛋白α 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 基因突变分析 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 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=96966-7