Version 2.78

Fully-Specified Name

Component
MT-TK gene.m.8296A>G
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MT-TK m.8296A>G Bld/T Ql
Display Name
MT-TK gene m.8296A>G Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MT-TK gene m.8296A>G, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.15
Last Updated
Version 2.56
Change Reason
Changed Component part from c.A8296G to m.8296A>G since variant is located on a mitochondrial sequence and to harmonize with HGVS nomenclature guidelines.; 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 MT-TK m.8296A>G:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen MT-TK m.8296A> G:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) MT-TK gène mutation m.8296A>G:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MT-TK, gene.m.8296A>G:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MT-TK Gene MT-TK m.8296A>G 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) MTTK 유전자.c.A8296G:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MT-TK-gen.m.8296A>G:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MT-TK gen MT-TK gen.m.8296A>G
pt-BR Portuguese (Brazil) MTTK gene.c.A8296G:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTTK c..A8296G; tRNA-lys; MERFF syndrome; MERRF syndrome; tRNA lysine; Myoclonic epilepsy and ragged red muscle fibers; Arbitrary; Point in time; Random; Bld/T; Tissue; Bld/T; Blood; WB; Whole blood; Ql; Ordinal; QL; Qualitative; Qual; Screen; PCR; Molecular genetics; MOLPATH.MUTATIONS; MOLPATH.MUTATIONS; Molecular pathology
ru-RU Russian (Russian Federation) MT-TK ген.m.8296A>G:PrThr:ТчкВрм:Кр/Тк:Пор:МолГен
Synonyms: Кровь Кровь или Ткань Порядковый Ткань и мазки Точка во времени;Момент
tr-TR Turkish (Turkey) MT-TK geni.m.8296A>G:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MT-TK 基因.m.8296A>G: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: G 型 M 型 MERFF 综合征;MERRF 综合征;tRNA 赖氨酸;tRNA-lys;tRNA-赖;tRNA-赖氨酸;肌肉阵挛性癫痫与红肌纤维粗糙不齐;肌肉阵挛性癫痫与红肌纤维粗糙不齐（Myoclonic epilepsy and ragged red muscle fibers）;肌肉阵挛性癫痫和肌纤维粗红病;肌阵孪性癫痫与破损性红肌纤维病;肌阵挛性癫及破碎红色肌纤维症候群;肌阵挛性癫痫合并破碎红纤维;肌阵挛性癫痫和不规整红纤维病 MTTK c..A8296G 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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CodeSystem lookup
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