Log In

Part Description

LP172700-9   APOB gene.p.Arg3500Gln & Arg3500Trp
The APOB gene encodes apoliprotein B, a primary protein component of low-density lipoprotein (LDL or "bad" cholesterol), very low-density lipoprotein (VLDL) and chylomicrons. [UniProt: P04114] Mutations in the APOB gene that affect the LDL receptor binding region are associated familial ligand-defective apoB-100 hypercholesterolemia (FDB). The most common mutation known to be associated with FDB is p.Arg3500Gln (R3500Q), although a second mutation in the same codon, p.Arg3500Trp (R3500W), is associated with FDB in certain populations. PMID: 15308601 Source: Regenstrief LOINC, PMID: 15308601

LOINC Names Get Info

Fully-Specified Name
APOB gene.p.Arg3500Gln & Arg3500Trp:Prid:Pt:Bld/Tiss:Nom:Molgen
Long Common Name
APOB gene p.Arg3500Gln and p.Arg3500Trp [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
APOB R3500Q+R3500W Bld/T
Display Name
APOB gene p.Arg3500Gln and p.Arg3500Trp Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
APOB gene p.Arg3500Gln and p.Arg3500Trp, Blood or tissue specimen

Part Model Get Info

  • Component
    APOB gene.p.Arg3500Gln & Arg3500Trp
    LP172700-9
    • Analyte
      APOB gene.p.Arg3500Gln & Arg3500Trp
      LP172700-9
      • Component Numerator
        APOB gene.p.Arg3500Gln & Arg3500Trp
        LP172700-9
        • Component Numerator Core
          APOB gene.p.Arg3500Gln & Arg3500Trp
          LP172700-9
        • Component Numerator Core Suffix
          NULL
           
      • 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

Example Answer List: LL2474-6

Source: Mayo Medical Laboratories
AnswerCodeScoreAnswer ID
One copy of the p.R3500Q mutation was detected.LA19922-6
One copy of the p.R3500W mutation was detected.LA19924-2
One copy each of the p.R3500Q and p.R3500W mutation was detected.LA19925-9
Two copies of the p.R3500Q mutation were detected.LA19926-7
Two copies of the p.R3500W mutation were detected.LA19927-5
A mutation was NOT detectedLA19943-2

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.44
Last Updated
Version 2.56 (MIN)
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 APOB p.Arg3500Gln a p.Arg3500Trp:Přítomnost nebo identita:Časový bod:Krev/tkáň:Nominální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο APOB p.Arg3500Gln & Arg3500Trp:Prid:Pt:Αίμα/Ιστός:Nom:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Nom P Prid Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο APOB Γονίδιο APOB p.Arg3500Gln & Arg3500Trp Ιστός Μοριακή γενετική
es-ESSpanish (Spain)Gen APOB p.Arg3500Gln & Arg3500Trp:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MXSpanish (Mexico)APOB gene.p.Arg3500Gln y Arg3500Trp:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FRFrench (France)APOB gène p.Arg3500Gln et Arg3500Trp:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-ITItalian (Italy)APOB, gene.p.Arg3500Gln & Arg3500Trp:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene APOB Gene APOB p.Arg3500Gln & Arg3500Trp Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NLDutch (Netherlands)APOB-gen.p.R3500Q & R3500W:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: APOB gen.p.R3500Q & R3500W molgen
pl-PLPolish (Poland)APOB gen.p.Arg3500Gln & Arg3500Trp:obecność lub identyfikacja:punkt w czasie:krew lub tkanka:skala nominalna:genetyka molekularna
Synonyms: diagnostyka molekularna Gen APOB;Gen apolipoproteiny B Warianty genu APOB p.Arg3500Gln i p.Arg3500Trp wynik kategorialny
pt-BRPortuguese (Brazil)APOB gene.p.R3500Q & R3500W:Ident:Pt:Sg/Tecido:Nom:Genética molecular
ru-RURussian (Russian Federation)APOB ген.p.R3500Q & R3500W:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен
Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)APOB geni.p.R3500Q & R3500W:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CNChinese (China)APOB 基因.p.R3500Q 与 R3500W: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: APOB 基因.p.R3500Q 与 R3500W P 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 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 载脂蛋白B基因;apolipoprotein B gene 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=73748-6