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Part Description

LP19671-4   CACNA1S gene
The CACNA1S gene (calcium channel, voltage-dependent, L type, alpha 1S subunit) [HGNC Gene ID:1397] is located on chromosome 1q32. This gene encodes one of the five subunits of the slowly inactivating L-type voltage-dependent calcium channel in skeletal muscle cells. Mutations in this gene have been associated with hypokalemic periodic paralysis, thyrotoxic periodic paralysis and malignant hyperthermia susceptibility. [provided by RefSeq, Jul 2008] [NCBI Gene ID:779] Source: National Center for Biotechnology Information (NCBI) Gene

LOINC Names Get Info

Fully-Specified Name
CACNA1S gene mutations tested for:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
CACNA1S gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal
Short Name
CACNA1S gene Mut Tested Bld/T
Display Name
CACNA1S gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
CACNA1S gene variants tested for, Blood or tissue specimen

Part Model Get Info

  • Component
    CACNA1S gene mutations tested for
    LP227857-2
    • Analyte
      CACNA1S gene mutations tested for
      LP227857-2
      • Component Numerator
        CACNA1S gene mutations tested for
        LP227857-2
        • Component Numerator Core
          CACNA1S gene
          LP19671-4
        • 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 1.0m
Last Updated
Version 2.13 (MIN)
Order vs. Observation
Observation

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen CACNA1S testované mutace:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο CACNA1S εξετασθείσες μεταλλάξεις:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο CACNA1S εξετασθείσες μεταλλάξεις εξετασθέν για Ιστός Μεταλλάξεις Μοριακή γενετική
es-ARSpanish (Argentina)determinación de las mutaciones del gen CACNA1S:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ESSpanish (Spain)Gen CACNA1S Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)Mutaciones del gen CACNA1S analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)CACNA1S gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)CACNA1S, gene, mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene CACNA1S Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KRKorean (Korea, Republic Of)카크나일에스 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NLDutch (Netherlands)CACNA1S-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: CACNA1S gen molgen
pl-PLPolish (Poland)CACNA1S gen badanie w kierunku mutacji:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen CACNA1S wynik kategorialny
pt-BRPortuguese (Brazil)CACNA1S teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular
Synonyms: Hypokalemic periodic paralysis; DHP receptor; Calcium channel, voltage-dependent, P/Q type, alpha 1A subunit; CACH1; CACN1; CACNL1A3; HOKPP; HypoPP; MHS5; Malignant hyperthermia susceptibility 5; 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)CACNA1S 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)CACNA1S geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)CACA1S 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: CACH1;CACN1;CACNL1A3;DHP 受体;HOKPP;HypoPP;MHS5;低血钾型周期性麻痹;低钾周期性麻痹;低钾性周期性瘫痪;低钾性周期性麻痹;恶性体温过高敏感性 5;恶性高温敏感性 5;恶性高温综合征敏感性 5;恶性高热敏感性 5;恶性高热症敏感性 5;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚单位;钙离子通道, 电压依赖式, P/Q 型, alpha 1A 亚基;钙离子通道, 电压依赖式, P/Q 型, α 1A 亚单位;钙离子通道, 电压依赖式, P/Q 型, 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

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