Version 2.78

Fully-Specified Name

Component
VWF gene.p.Thr791Met
Property
PrThr
Time
Pt
System
Bld
Scale
Ord
Method
Molgen

Additional Names

Short Name
VWF p.T791M Bld Ql
Display Name
VWF gene.p.Thr791Met Molgen Ql (Bld)
Consumer Name Alpha Get Info
VWF gene p.Thr791Met, Blood

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56
Change Reason
According to OMIM (2012), the mutation originally designated as Thr28Met (T28M) is now designated Thr791Met (T791M). 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
es-ES Spanish (Spain) Gen VWF p.Thr791Met:PrThr:Punto temporal:Sangre:Ord:Genética molecular
es-MX Spanish (Mexico) Gen del FvW p. Thr791Met:Presencia o umbral:Punto temporal:Sangre:Ordinal:Genética molecular
fr-FR French (France) VWF gène p.Thr791Met:Présence/Seuil:Ponctuel:Sang:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) VWF, gene.p.Thr791Met:PrThr:Pt:Sangue:Ord:Molgen
Synonyms: Gene VWF Gene VWF p.Thr791Met Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue
ko-KR Korean (Korea, Republic Of) VWF 유전자.P.T28M:임의적분:검사시점:전혈:순위척도:분자유전
nl-NL Dutch (Netherlands) VWF-gen.p.T791M:aanwezigheid:moment:bloed:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen VWF gen VWF gen.p.T791M
pt-BR Portuguese (Brazil) VWF gene.p.T28M:Arb:Pt:SgTotal:Ord:Genética molecular
Synonyms: ; VWF p.T28M; von Willebrand Factor gene; F8VWF; VWD; Arbitrary; Point in time; Random; 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) VWF ген.p.T791M:PrThr:ТчкВрм:Кр:Пор:МолГен
Synonyms: Кровь Порядковый Точка во времени;Момент
tr-TR Turkish (Turkey) VWF geni.p.T791M:MevcEşik:Zmlı:Kan:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) VWF 基因.p.T28M:存在情况或阈值:时间点:全血:序数型:分子遗传学类实验室方法
Synonyms: F8VWF;von Willebrand 因子基因;VWD;血管性血友病因子基因 P 型 VWF p.T28M 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 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 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=41268-4