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Part Description

LP36620-0   KCNQ1 gene
The KCNQ1 gene (potassium channel, voltage gated KQT-like subfamily Q, member 1) [HGNC Gene ID:6294] is located on chromosome 11p15.5. This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Aug 2011] [NCBI Gene ID:3784] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
KCNQ1 gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
KCNQ1 gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
KCNQ1 gene Mut Tested Bld/T
Display Name
KCNQ1 gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
KCNQ1 gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    KCNQ1 gene mutations tested for
    LP228791-2
    • Analyte
      KCNQ1 gene mutations tested for
      LP228791-2
      • Component Numerator
        KCNQ1 gene mutations tested for
        LP228791-2
        • Component Numerator Core
          KCNQ1 gene
          LP36620-0
        • 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 2.17
Last Updated
Version 2.17 (MIN)
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen KCNQ1 testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο KCNQ1 εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο KCNQ1 εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ESSpanish (Spain)Gen KCNQ1 Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen KCNQ1 analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)KCNQ1 gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)KCNQ1, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene KCNQ1 Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
nl-NLDutch (Netherlands)KCNQ1-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: KCNQ1 gen molgen
pl-PLPolish (Poland)KCNQ1 gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen KCNQ1 wynik kategorialny
pt-BRPortuguese (Brazil)KCNQ1 análise de mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: ATFB1; KCNA8; KCNA9; KVLQT1; Kv1.9; Kv7.1; LQT; LQTS; RWS; WRS; Long (electrocardiographic) QT syndrome, Ward-Romano syndrome 1; Potassium voltage-gated channel, KQT-like subfamily, member 1; KCNQ10T1; 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-RURussian (Russian Federation)KCNQ1 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)KCNQ1 geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)KCNQ1 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: ATFB1;KCNA8;KCNA9;KCNQ10T1;Kv1.9;Kv7.1;KVLQT1;LQT;LQTS;Romano-Ward 长 QT 综合征;RWS;WRS;电压门控型钾离子通道, KQT 样亚家族, 成员 1;电压门控型钾通道, KQT 样亚家族, 成员 1;电压门控式钾离子通道, KQT 样亚家族, 成员 1;电压门控式钾通道, KQT 样亚家族, 成员 1;电压门控钾离子通道, KQT 样亚家族, 成员 1;电压门控钾通道, KQT 样亚家族, 成员 1;钾电压门控型通道, KQT 样亚家 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=44608-8