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Status Information

Status
DEPRECATED
Reason
Erroneous
Comment
This term was meant to represent the amino acid change at codon 222 that is associated with the C to T nucleotide change at position 677 in the MTHFR gene. However, the term was created erroneously in that the codon was specified as 677, instead of 222, and there is an existing term for the C to T change at 677.
Map-ToLong Common NameMapping Guidance
28005-7MTHFR gene c.677C>T [Genotype] in Blood or Tissue by Molecular genetics method Nominal

LOINC Names Get Info

Fully-Specified Name
MTHFR gene.p.Ala677Val:PrThr:Pt:Bld/Tiss:Ord:Molgen
Long Common Name
Deprecated MTHFR gene p.Ala677Val [Presence] in Blood or Tissue by Molecular genetics method
Short Name
Deprecated MTHFR p.A677V Bld/T Ql
Display Name
MTHFR gene p.Ala677Val Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MTHFR gene p.Ala677Val, Blood or tissue specimen

Part Model Get Info

  • Component
    MTHFR gene.p.Ala677Val
    LP19740-7
    • Analyte
      MTHFR gene.p.Ala677Val
      LP19740-7
      • Component Numerator
        MTHFR gene.p.Ala677Val
        LP19740-7
        • Component Numerator Core
          MTHFR gene.p.Ala677Val
          LP19740-7
        • Component Numerator Core Suffix
          NULL
           
      • Component Denominator
        NULL
         
        • Component Denominator Core
          NULL
           
        • Component Denominator Core Suffix
          NULL
           
    • Challenge
      NULL
       
    • Adjustment
      NULL
       
    • Count
      NULL
       
  • Property
    PrThr
    LP217195-9
  • 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 1.0m
Last Updated
Version 2.65 (DEL)
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

TagLanguageTranslation
cs-CZCzech (Czechia)Gen MTHFR p.Ala677Val:Přítomnost nebo práh:Časový bod:Krev/tkáň:Ordinální:Molekulární genetika
el-GRGreek (Greece)Γονίδιο MTHFR p.Ala677Val:PrThr:Pt:Αίμα/Ιστός:Ord:Μοριακή γενετική
Synonyms: MOLPATH MOLPATH.MUT Ord P PrThr Pt Αίμα Αίμα/Ιστός Γονίδιο Γονίδιο MTHFR Γονίδιο MTHFR p.Ala677Val Ιστός Μοριακή γενετική
es-ARSpanish (Argentina)gen MTHFR.P.A677V:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ESSpanish (Spain)Gen MTHFR p.A677V:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MXSpanish (Mexico)Gen MTHFR p. Ala677Val:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FRFrench (France)MTHFR gène p.Ala677Val:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-ITItalian (Italy)MTHFR, gene.p.Ala677Val:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MTHFR Gene MTHFR p.Ala677Val Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
ko-KRKorean (Korea, Republic Of)MTHFR 유전자.p.A677V:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NLDutch (Netherlands)MTHFR-gen.p.A677V:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MTHFR gen MTHFR gen.p.A677V
pl-PLPolish (Poland)MTHFR gen.p.Ala677Val:granica wykrywalności:punkt w czasie:krew lub tkanka:uporządkowany:genetyka molekularna
Synonyms: diagnostyka molekularna Gen MTHFR Gen MTHFR p.Ala677Val
pt-BRPortuguese (Brazil)MTHFR gene.p.A677V:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTHFR p.A677V; Vascular risk; NADPH; 5,10-methylenetetrahydrofolate reductase 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)MTHFR ген.p.A677V:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TRTurkish (Turkey)MTHFR geni.p.A677V:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CNChinese (China)MTHFR 基因.p.A677V: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: 5,10-亚甲基四氢叶酸还原酶基因;NADPH;血管危险(Vascular risk);血管风险(Vascular risk);还原型烟酰胺腺嘌呤二核苷酸磷酸;还原型辅酶 II MTHFR p.A677V 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

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CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=21710-9