Log In

Part Description

LP35583-1   MAPT gene
The MAPT gene (microtubule-associated protein tau) [HGNC Gene ID:6893] is located on chromosome 17q21.1. This gene encodes the microtubule-associated protein tau (MAPT) whose transcript undergoes complex, regulated alternative splicing, giving rise to several mRNA species. MAPT transcripts are differentially expressed in the nervous system, depending on stage of neuronal maturation and neuron type. MAPT gene mutations have been associated with several neurodegenerative disorders such as Alzheimer's disease, Pick's disease, frontotemporal dementia, cortico-basal degeneration and progressive supranuclear palsy. [provided by RefSeq, Jul 2008] [NCBI Gene ID:4137] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
MAPT gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
MAPT gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
MAPT gene Mut Tested Bld/T
Display Name
MAPT gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
MAPT gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    MAPT gene mutations tested for
    LP228936-3
    • Analyte
      MAPT gene mutations tested for
      LP228936-3
      • Component Numerator
        MAPT gene mutations tested for
        LP228936-3
        • Component Numerator Core
          MAPT gene
          LP35583-1
        • Component Numerator Core Suffix
          mutations tested for
          LP32421-7
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Prid
    LP6850-4
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Nom
    LP7750-5
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.36
Last Updated
Version 2.36 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MAPT testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο MAPT εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο MAPT εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen MAPT gene Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen MAPT analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)MAPT gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)MAPT, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene MAPT Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NLDutch (Netherlands)MAPT-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: MAPT gen molgen
pl-PLPolish (Poland)MAPT gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen MAPT wynik kategorialny
ru-RURussian (Russian Federation)MAPT 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-TRTurkish (Turkey)MAPT geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)MAPT 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: DDPAC;FLJ31424;FTDP-17;G蛋白 beta1/gamma2 亚单位-交互因子 1;G蛋白 β1/γ2 亚单位-交互因子 1;MAPTL;MSTD;MTBT1;MTBT2;TAU 基因;微管相关蛋白 tau;抑制解除-痴呆-帕金森病-肌肉萎缩复合体;抑制解除-痴呆-帕金森病-肌萎缩复合体;抑制解除-痴呆-帕金森神经机能障碍-肌肉萎缩复合体;抑制解除-痴呆-帕金森神经机能障碍-肌萎缩复合体;抑制解除-痴呆-帕金森综合征-肌萎缩复合体;抑制解除-痴呆-震颤性麻痹-肌肉萎缩复合体;抑制解除-痴 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=63438-6