Version 2.78

Fully-Specified Name

Component
CFTR gene.p.Phe508del
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Long Common Name
CFTR gene.p.Phe508del [Presence] in Blood or Tissue by Molecular genetics method
Short Name
CFTR p.F508del Bld/T Ql
Display Name
CFTR gene.p.Phe508del Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
CFTR gene p.Phe508del, 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
de-DE German (Germany) CFTR-Gen.p.Phe508del:Nachweis oder Schwellenwert:Zeitpunkt:Blut oder Gewebe:Ordinal:Molekulargenetisch
es-AR Spanish (Argentina) gen cftr.P.F508 DEL:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen CFTR p.F508 Del:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen CFTR p. Phe508del:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) CFTR gène p.Phe508del:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) CFTR, gene.p.Phe508del:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene CFTR Gene CFTR p.Phe508 delezione 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) CFTR 유전자.p.F508 결손:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) CFTR-gen.p.F508del:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: CFTR gen CFTR gen.p.F508del molgen
pt-BR Portuguese (Brazil) CFTR gene.p.F508 del:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; CFTR p.F508 Del; Cystic fibrosis transmembrane conductance regulator; CFA; AcC35; AcCC7; CBAVD; MRP7; 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) CFTR ген.p.F508del:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) CFTR geni.p.F508del:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) CFTR 基因.p.F508 del: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: ABC35;ABCC7;CBAVD;CFA;MRP7;囊性纤维化跨膜转运调节物;囊性纤维化转膜传导调节因子;囊性纤维变性跨膜传导调节因子;囊性纤维变性跨膜传导调节蛋白;囊肿性纤维化跨膜传导调节因子;囊肿性纤维化跨膜传导调节蛋白 CFTR p.F508 Del 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
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