Version 2.78

Fully-Specified Name

Component
MT-ND4 gene.m.11696G>A
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MT-ND4 m.11696G>A Bld/T Ql
Display Name
MT-ND4 gene m.11696G>A Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MT-ND4 gene m.11696G>A, 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 part from p.I312V to m.11696G>A since variant name at protein level is not as consistent in studies compared to the corresponding, possibly more familiar, mitochondrial location.; 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-AR Spanish (Argentina) gen MT4D4.P.I312V:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen MT-ND4 m.11696G>A:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen MT-ND4 m.11696G> A:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) MT-ND4 gène mutation m.11696G>A:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MT-ND4, gene.m.11696G>A:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MT-ND4 m.11696G>A 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) Mtnd4 유전자.p.I312V:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MT-ND4-gen.m.11696G>A:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MT-ND4 gen.m.11696G>A
pt-BR Portuguese (Brazil) Mtnd4 gene.p.I312V:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTND4 p.I312V; LHON; Spastic dystonia; Leber hereditary optic neuropathy; NADH ubiquinone oxidoreductase subunit ND4; NADH dehydrogenase subunit 4; 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) MT-ND4 ген.m.11696G>A:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MT-ND4 geni.m.11696G>A:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MT-ND4 基因.m.11696G>A: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: A 型 Leber 遗传性视神经病 Leber 遗传性视神经病（Leber hereditary optic neuropathy，LHON） LHON M 型 MTND4 p.I312V NADH CoQ 氧化还原酶亚单位 ND4 NADH 泛醌氧化还原酶亚单位 ND4 NADH 脱氢酶亚单位 4 NADH 脱氢酶亚基 4 NADH 辅酶 Q 氧化还原酶亚单位 ND4 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 痉挛性肌张力障碍 血;血液 遗传基因;遗传因子;吉恩;生物基因

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