Version 2.78

Term Description

Factor V Leiden R506Q assays allow for the detection and genotyping of a single point mutation (G to A at position 1691, [NCBI dbSNP ID: rs6025]) of the human Factor V (F5) gene which leads to an amino acid change from arginine to glutamine (R506Q) in the F5 protein. Expected results include wild type, heterzygous, or homozygous for the R506Q (or 1691G>A) mutation.
Source: Regenstrief LOINC

Fully-Specified Name

Component
F5 gene.p.Arg506Gln
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
F5 p.R506Q Bld/T Ql
Display Name
F5 gene p.Arg506Gln Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
F5 gene p.Arg506Gln, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 1.0m
Last Updated
Version 2.73
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
Common Test Rank Get Info
5281

Language Variants Get Info

Tag Language Translation
de-AT German (Austria) Synonyms: Faktor V Leiden Mut.
de-DE German (Germany) F5-Gen.p.Arg506Gln:Nachweis oder Schwellenwert:Zeitpunkt:Blut oder Gewebe:Ordinal:Molekulargenetisch
es-AR Spanish (Argentina) gen F5.P.R506Q:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen F5 p.R506Q:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) F5 gene.p.Arg506Gln:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-CA French (Canada) Gène F5.p.Arg506Gln:Présence-Seuil:Temps ponctuel:Sang/Tissu:Ordinal:Molgen
fr-FR French (France) F5 gène p.Arg506Gln:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) F5, gene.p.Arg506Gln:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene F5 Gene F5 p.Arg506Gln 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) F5 유전자.p.R506Q:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) F5-gen.p.R506Q:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: f5 gen f5 gen.p.R506Q molgen
pt-BR Portuguese (Brazil) F5 gene.p.R506Q:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; F5 p.R506Q; Coagulation Factor V - Leiden gene; APC; Thrombophilia; LAcile factor; Proaccelerin gene; FVL; Activated protein C cofactor; 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) F5 ген.p.R506Q:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) F5 geni.p.R506Q:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) F5 基因.p.R506Q: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: APC;FVL;不稳定因素;促凝血球蛋白原基因;凝血因子 V - Leiden 基因;凝血因子Ⅴ - Leiden 基因;加速凝血球蛋白基因;易变因子;活化型蛋白C辅助因子;活化型蛋白C辅因子;活化蛋白C辅助因子;活化蛋白C辅因子;活性型蛋白C辅助因子;活性型蛋白C辅因子;活性蛋白C辅助因子;活性蛋白C辅因子;激活型蛋白C辅助因子;激活型蛋白C辅因子;激活蛋白C辅助因子;激活蛋白C辅因子;血栓形成倾向 F5 p.R506Q;APC;FVL;不稳定因素;促凝血球蛋白原基因;凝血因子 V - Leiden 基因;凝血因子Ⅴ - Leiden 基因;加速凝血球蛋白基因;易变因子;活化型蛋白C辅助因子;活化型蛋白C辅因子;活化蛋白C辅助因子;活化蛋白C辅因子;活性型蛋白C辅助因子;活性型蛋白C辅因子;活性蛋白C辅助因子;活性蛋白C辅因子;激活型蛋白C辅助因子;激活型蛋白C辅因子;激活蛋白C辅助因子;激活蛋白C辅因子;血栓形成倾向 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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