Version 2.78

Description

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

Basic Part Properties

Part Display Name
MT-TL1 gene m.3243A>G
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
MT-TL1 m.3243A>G

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19744-9
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19744-9

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MT-TL1 基因.m.3243A>G
Synonyms: 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
et-EE Estonian (Estonia) Mttl1 geen.c.A3243G
es-ES Spanish (Spain) Gen MT-TL1 m.3243A>G
it-IT Italian (Italy) MT-TL1, gene.m.3243A>G
Synonyms: Gene MT-TL1 m.3243A>G
tr-TR Turkish (Turkey) MT-TL1 geni.m.3243A>G
ru-RU Russian (Russian Federation) MT-TL1 ген.m.3243A>G
nl-NL Dutch (Netherlands) MT-TL1-gen.m.3243A>G
Synonyms: MT-TL1 gen.m.3243A>G