Log In

LOINC Names Get Info

Fully-Specified Name
AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu:Arb:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
AMPD1 gene p.Gln12Ter and p.Pro48Leu [Presence] in Blood or Tissue by Molecular genetics method
Short Name
AMPD1 p.Q12X+P48L Bld/T Ql
Display Name
AMPD1 gene p.Gln12Ter and p.Pro48Leu Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
AMPD1 gene p.Gln12Ter and p.Pro48Leu, Blood or tissue specimen

Part Model Get Info

  • Component
    AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
    LP35643-3
    • Analyte
      AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
      LP35643-3
      • Component Numerator
        AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
        LP35643-3
        • Component Numerator Core
          AMPD1 gene.p.Gln12Ter+AMPD1 gene.p.Pro48Leu
          LP35643-3
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    Arb
    LP6781-1
  • Time
    Pt
    LP6960-1
  • System
    Bld/Tiss
    LP7061-7
    • System Core
      Bld/Tiss
      LP7061-7
    • Super System
      NULL
       
  • Scale
    Ord
    LP7751-3
  • Method
    Molgen
    LP6404-0

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56 (NAM)
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.
Order vs. Observation
Both

Language Variants Get Info

TagLanguageTranslation
cs-CZCzech (Czechia)Gen AMPD1 p.Gln12Ter a p.Pro48Leu:Arbitrární:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο AMPD1.p.Gln12Ter+Γονίδιο AMPD1.p.Pro48Leu:Arb:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: Arb MOLPATH MOLPATH.MUT Ord P Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο AMPD1.p.Gln12Ter+Γονίδιο AMPD1.p.Pro48Leu Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen AMPD1 p.Q12X+Gen AMPD1 p.P48L:Arbitrario:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen AMPD1 p.Gln12Ter + gen AMPD1 p.Pro48Leu:Arbitrario:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)AMPD1 gène p.Gln12Ter+AMPD1 gène p.Pro48Leu:Arbitraire:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)AMPD1, gene.p.Gln12Ter+AMPD1, gene.p.Pro48Leu:Arb:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Arbitrario Gene AMPD1 p.Gln12Ter+Gene AMPD1 p.Pro48Leu Genetica molecolare Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)AMPD1 유전자.p.Q12X+AMPD1 유전자.p.P48L:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)AMPD1-gen.p.Q12X + AMPD1-gen.p.P48L:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: AMPD1 gen.p.Q12X+AMPD1 gen.p.P48L molgen
pl-PLPolish (Poland)AMPD1 gen.p.Gln12Ter+AMPD1 gen.p.Pro48Leu:jednostka umowna:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen AMPD1 p.Gln12Ter i p.Pro48Leu
pt-BRPortuguese (Brazil)AMPD1 gene.p.Q12X+AMPD1 gene.p.P48L:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; AMPD1 p.Q12X+P48L; AMPD1 p.Q12X; Gln12Ter; AMPD1 p.P48L; Pro18Leu; MAD; MADA; Adenosine monophosphate deaminase-1 (muscle) gene; adenosine monophosphate deaminase 1 (isoform M) gene; Myoadenylate deaminase gene; 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-RURussian (Russian Federation)AMPD1 ген.p.Q12X+AMPD1 ген.p.P48L:Произв:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Произвольный Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)AMPD1 geni.p.Q12X+AMPD1 geni.p.P48L:Sç:Zmlı:Kan/Dk:Srl:Molgen
zh-CNChinese (China)AMPD1 基因.p.Q12X+AMPD1 基因.p.P48L:任意型:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: AMPD1 p.Q12X+P48L MAD MADA P 型 一磷酸腺甙脱氨基酶1(异构体M)基因 一磷酸腺甙脱氨基酶1(肌肉)基因 一磷酸腺甙脱氨酶1(异构体M)基因 一磷酸腺甙脱氨酶1(肌肉)基因 一磷酸腺苷脱氨基酶1(异构体M)基因 一磷酸腺苷脱氨基酶1(肌肉)基因 一磷酸腺苷脱氨酶1(异构体M)基因 一磷酸腺苷脱氨酶1(肌肉)基因 任意;任意的;人工型 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 环腺苷酸脱氨基酶1(异构体M)基因 环腺苷酸脱氨基酶1(肌肉)基因 环腺苷酸脱氨酶1(异构体M)基因 环腺苷酸脱氨酶1(肌肉)基因 肌肉腺苷酸脱氨基酶基因 肌肉腺苷酸脱氨酶基因 腺嘌呤核一磷酸脱氨基酶1(异构体M)基因 腺嘌呤核一磷酸脱氨基酶1(肌肉)基因 腺嘌呤核一磷酸脱氨酶1(异构体M)基因 腺嘌呤核一磷酸脱氨酶1(肌肉)基因 腺苷一磷酸脱氨基酶1(异构体M)基因 腺苷一磷酸脱氨基酶1(肌肉)基因 腺苷一磷酸脱氨酶1(异构体M)基因 腺苷一磷酸脱氨酶1(肌肉)基因 腺苷酸脱氨基酶1(异构体M)基因 腺苷酸脱氨基酶1(肌肉)基因 腺苷酸脱氨酶1(异构体M)基因 腺苷酸脱氨酶1(肌肉)基因 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=40876-5