Version 2.78

Fully-Specified Name

Component
CACNA1S gene.p.Arg1239His
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
CACNA1S p.R1239h Bld/T Ql
Display Name
CACNA1S gene p.Arg1239His Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CACNA1S gene p.Arg1239His, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.56
Change Reason
Changed Component name to align with the current HGVS recommendations to use the three letter codes for amnio acids. In the shortname, we kept the single letter codes.; The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-AR Spanish (Argentina) gen CACNA1S.P.R1239H:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen CACNA1S p.R1239H:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen CACNA1S p.Arg1239His:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CACNA1S gène p.Arg1239His:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) CACNA1S, gene.p.Arg1239His:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene CACNA1S Gene CACNA1S p.Arg1239His Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KR Korean (Korea, Republic Of) 카크나일에스 유전자.p.R1239H:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) CACNA1S-gen.p.R1239H:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CACNA1S gen CACNA1S gen.p.R1239H molgen
pt-BR Portuguese (Brazil) CACNA1S gene.p.R1239H:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; CACNA1S p.R1239H; Arg1239His; 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; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; P prime; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) CACNA1S ген.p.R1239H:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CACNA1S geni.p.R1239H:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) CACA1S 基因.p.R1239H:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: Arg1239His;CACNA1S p.R1239H 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, P 型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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=21643-2