21712-5

MTHFR gene mutations tested for in Blood or Tissue by Molecular genetics method Nominal

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Part Description

LP19739-9 MTHFR gene
The MTHFR gene (methylenetetrahydrofolate reductase (NAD(P)H)) [HGNC Gene ID:7436] is located on chromosome 1p36.3. The protein encoded by this gene catalyzes the conversion of 5,10-methylenetetrahydrofolate to 5-methyltetrahydrofolate, a co-substrate for homocysteine remethylation to methionine. Genetic variation in this gene influences susceptibility to occlusive vascular disease, neural tube defects, colon cancer and acute leukemia, and mutations in this gene are associated with methylenetetrahydrofolate reductase deficiency.[provided by RefSeq, Oct 2009] [NCBI Gene ID:4524] Two common variants in the MTHFR gene are c.665C>T (also known as c.677C>T, and p.Ala222Val) and c.1298A>C. The 665C>T variant is heat labile, and patients who are homozygous for this variant have higher serum levels of homocysteine and lower levels of folate. Individuals who have one copy of each of the two variants have similar clinical manifestations, while those who are homozygous for 1298A>C do not have elevated homocysteine levels. [NCBI Books: NBK66131] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component: MTHFR gene mutations tested for
Property: Prid
Time: Pt
System: Bld/Tiss
Scale: Nom
Method: Molgen

Additional Names

Short Name: MTHFR gene Mut Tested Bld/T
Display Name: MTHFR gene mutations tested for Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info: MTHFR gene variants tested for, Blood or tissue specimen

Basic Attributes

Class: MOLPATH.MUT
Type: Laboratory
First Released: Version 1.0m
Last Updated: Version 2.73
Order vs. Observation: Observation
Common Test Rank Get Info: 9621

Language Variants Get Info

Tag	Language	Translation
es-AR	Spanish (Argentina)	determinación de mutaciones del gen MTHFR:presencia o identidad:punto en el tiempo:sangre entera/tejido:Nominal:genética molecular
es-ES	Spanish (Spain)	Gen MTHFR Análisis de mutaciones para...:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX	Spanish (Mexico)	Mutaciones del gen MTHFR analizadas para:Presencia o identidad:Punto temporal:Sangre o tejido:Nominal:Genética molecular
fr-FR	French (France)	MTHFR gène mutations recherchées:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT	Italian (Italy)	MTHFR, gene , mutazioni testate per:Prid:Pt:Sangue/Tess:Nom:Molgen Synonyms: Gene MTHFR Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci testato
ko-KR	Korean (Korea, Republic Of)	MTHFR 유전자 돌연변이 분석용:존재:검사시점:전혈/조직:명칭결과:분자유전
nl-NL	Dutch (Netherlands)	MTHFR-gen geteste mutaties:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek Synonyms: molgen MTHFR gen
pt-BR	Portuguese (Brazil)	MTHFR teste para mutação do gene:Ident:Pt:Sg/Tecido:Nom:Genética molecular Synonyms: Vascular risk; NADPH; 5,10-methylenetetrahydrofolate reductase gene; Identity or presence; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Nominal; PCR; Molecular genetics; Mut Tested; Mutation; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU	Russian (Russian Federation)	MTHFR ген мутации тестирован на:ПрИд:ТчкВрм:Кр/Тк:Ном:МолГен Synonyms: Кровь Кровь или Ткань Номинальный;Именной Присутствие или Идентификация тестирован;анализ проведен на;исследован на Ткань и мазки Точка во времени;Момент
tr-TR	Turkish (Turkey)	MTHFR geni mutasyonlar, test edilen:MevcKimlik:Zmlı:Kan/Dk:Snf:Molgen
zh-CN	Chinese (China)	MTHFR 基因已测试的突变:存在与否或特征标识:时间点:全血/组织:名义型: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 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存在;存在与否;特征标识;身份;身份标识已检测的;已检验的;经检测的;经检验的;经测试的;经过检测的;经过检验的;经过测试的已检测的突变;已检验的突变;经检测的突变;经检验的突变;经测试的突变;经过检测的突变;经过检验的突变;经过测试的突变时刻;随机;随意;瞬间未作说明的组织;组织;组织 & 涂片突变突变类;基因突变血;血液遗传基因;遗传因子;吉恩;生物基因

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