Version 2.78

Term Description

Detection of the polymorphism variant R353Q (p.Arg353Gln, rs6046) in the Factor VII gene that may confer protection against thrombosis.
Source: Regenstrief LOINC

Part Description

LP419575-8   F7 gene.p.Arg353Gln
The F7 gene (coagulation factor VII (serum prothrombin conversion accelerator)) [HGNC Gene ID:3544] is located on chromosome 13q34. This gene encodes coagulation factor VII which is a vitamin K-dependent factor essential for hemostasis. This factor circulates in the blood in a zymogen form, and is converted to an active form by either factor IXa, factor Xa, factor XIIa, or thrombin by minor proteolysis. Upon activation of the factor VII, a heavy chain containing a catalytic domain and a light chain containing 2 EGF-like domains are generated, and two chains are held together by a disulfide bond. In the presence of factor III and calcium ions, the activated factor then further activates the coagulation cascade by converting factor IX to factor IXa and/or factor X to factor Xa. Defects in this gene can cause coagulopathy. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, May 2012] [NCBI Gene ID:2155] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
F7 gene.p.Arg353Gln
Property
Geno
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Short Name
F7 R353Q Geno Bld/T
Display Name
F7 gene p.Arg353Gln genotype Molgen (Bld/Tiss)
Consumer Name Alpha Get Info
F7 gene p.Arg353Gln genotype, Blood or tissue specimen

Example Answer List: LL2014-0

Source: Estonian Society of Laboratory Medicine
Answer Code Score Answer ID
Wild type LA9658-1
Heterozygous LA6706-1
Homozygous LA6705-3

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.69
Last Updated
Version 2.69
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen F7 p.Arg353Gln:Genotipo:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) F7 gene.p.Arg353Gln:Genotipo:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR French (France) F7 gène p.Arg353Gln:Génotype:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) F7, gene.p.Arg353Gln:Geno:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Gene F7 Gene F7 p.Arg353Gln Genetica molecolare Genotipo Mutazione genica Patologia molecolare Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) F7-gen.p.Arg353Gln:genotype:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: f7 gen molgen
zh-CN Chinese (China) F7 基因.p.Arg353Gln:基因型:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: CF 基因 P 型 全血或组织;血液/组织;血液或组织 凝血因子 7 凝血因子 VII 凝血因子 VII 基因;凝血因子Ⅶ基因;血清凝血酶原转化加速因子 凝血因子Ⅶ 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 因子 7 因子 VII 因子Ⅶ 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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