21626-7

ATP7B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal

Active

Part Description

LP19656-5 ATP7B gene
The ATP7B gene (ATPase, Cu++ transporting, beta polypeptide) [HGNC Gene ID:870] is located on chromosome 13q14.3. This gene is a member of the P-type cation transport ATPase family and encodes a protein with several membrane-spanning domains, an ATPase consensus sequence, a hinge domain, a phosphorylation site, and at least 2 putative copper-binding sites. This protein functions as a monomer, exporting copper out of the cells, such as the efflux of hepatic copper into the bile. Alternate transcriptional splice variants, encoding different isoforms with distinct cellular localizations, have been characterized. Mutations in this gene have been associated with Wilson disease (WD). [provided by RefSeq, Jul 2008] [NCBI Gene ID:540] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: ATP7B gene targeted mutation analysis
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Long Common Name: ATP7B gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name: ATP7B gene Mut Anl Bld/T
Display Name: ATP7B gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: ATP7B 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: 6929

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	análisis de la mutación del gen ATP7B:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen ATP7B Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Análisis de mutación dirigida al gen ATP7B:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	ATP7B gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	ATP7B, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene ATP7B Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR	Korean (Korea, Republic Of)	ATP7B 유전자 돌연변이 분석:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	ATP7B-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: ATP7B gen molgen targeted
pt-BR	Portuguese (Brazil)	ATP7B análise de mutação genética:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Wilson disease; CU(2+)- transporting beta polypeptide; WND; PWD; WC1; ATPase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Anal; Mutations; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	ATP7B ген исследование на мутацию: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)	ATP7B geni Mutasyon analizi:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	ATP7B 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: ATP 酶基因;ATPase 基因;CU(2+)-转运 Beta 多肽;CU(2+)-转运β多肽;PWD;WC1;Wilson 病;WND;三磷酸腺苷酶基因;威尔森氏症;威尔逊病;肝豆状核变性;腺苷三磷酸酶基因;铜(2+)-转运 Beta 多肽;铜(2+)-转运β多肽;铜离子转运 Beta 多肽;铜离子-转运 Beta 多肽;铜离子转运β多肽;铜离子-转运β多肽全血或组织;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=21626-7

LOINC Copyright

Copyright © 2024 Regenstrief Institute, Inc. All Rights Reserved. To the extent included herein, the LOINC table and LOINC codes are copyright © Regenstrief Institute, Inc. and the Logical Observation Identifiers Names and Codes (LOINC) Committee. See https://loinc.org/license for the full LOINC copyright and license.