Version 2.78

Term Description

Mitochondrial myopathy; Encephalopathy; Lactic acidosis; Strokelike episodes
Source: Regenstrief LOINC

Part Description

LP19744-9   MT-TL1 gene.m.3243A>G
Mitochondrial myopathy, encephalopathy, lactic acidosis and stoke like episodes syndrome (MELAS) gene mutation causes detection of an A to G point mutation at base pair 3243 in the mitochondrial tRNA Leucine (MTTL1) gene. Source: Regenstrief Institute

Fully-Specified Name

Component
MT-TL1 gene.m.3243A>G
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
MT-TL1 m.3243A>G Bld/T Ql
Display Name
MT-TL1 gene m.3243A>G Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
MT-TL1 gene m.3243A>G, 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 c.A3243G to m.3243A>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-AR Spanish (Argentina) gen MTTL1.C.A3243G:arbitrario:punto en el tiempo:sangre entera/tejido:ordinal:genética molecular
es-ES Spanish (Spain) Gen MT-TL1 m.3243A>G:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) Gen MT-TL1 m.3243A> G:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) MT-TL1 gène mutation m.3243A>G:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) MT-TL1, gene.m.3243A>G:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene MT-TL1 m.3243A>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) Mttl1 유전자.c.A3243G:임의적분:검사시점:전혈/조직:순위척도:분자유전
nl-NL Dutch (Netherlands) MT-TL1-gen.m.3243A>G:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen MT-TL1 gen.m.3243A>G
pt-BR Portuguese (Brazil) Mttl1 gene.c.A3243G:Arb:Pt:Sg/Tecido:Ord:Genética molecular
Synonyms: ; MTTL1 c.A3243G; MELAS syndrome; tRNA-leu; DiAcetes mellitus-deafness syndrome maternally inherited; tRNA leucine 1; tRNA leucine 1 (UUA/G); 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-TL1 ген.m.3243A>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-TL1 geni.m.3243A>G:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) MT-TL1 基因.m.3243A>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 MELAS 综合征;MTTL1 c.A3243G;tRNA 亮氨酸 1;tRNA-leu;tRNA-亮;tRNA-亮氨酸;母亲遗传性糖尿与耳聋;母系遗传性糖尿病-耳聋综合征;母系遗传性线粒体糖尿病伴耳聋;粒线体肌病变、脑病变、乳酸中毒、类中风发作之症候群;粒线体肌病变、脑病变、乳酸酸血症、中风样症候群;粒线体脑症合并乳酸血症及类中风发作;线粒体肌脑病伴乳酸性酸中毒及中风样发作综合征;线粒体肌脑病伴乳酸性酸中毒及中风样发作综合征（mitochondrial encephalomyophthy, lactic tRNA 亮氨酸 1 (UUA/G) 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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