Version 2.78

Description

Myoclonic epilepsy associated with ragged red fibers (MERRF) gene mutation causes a G to A point mutation at base pair 8344 in the mitochondrial tRNA lysine (MTTK) gene. Source: Regenstrief Institute

Basic Part Properties

Part Name
MT-TK gene.m.8344A>G
Part Display Name
MT-TK gene m.8344A>G
Part Type
Component (Describes the core component or analyte measured)
Created On
2000-05-04
Construct for LOINC Short Name
MT-TK m.8344A>G

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

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=LP19743-1
ConceptMap translate
https://fhir.loinc.org/ConceptMap/$translate?system=http://loinc.org&code=LP19743-1

Language Variants Get Info

Tag Language Translation
zh-CN Chinese (China) MT-TK 基因.m.8344A>G
Synonyms: MERFF 综合征;MERRF 综合征;MTTK c.A8344G;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
et-EE Estonian (Estonia) MTTK geen.c.A8344G
es-ES Spanish (Spain) Gen MT-TK m.8344A>G
it-IT Italian (Italy) MT-TK, gene.m.8344A>G
Synonyms: Gene MT-TK m.8344A>G
tr-TR Turkish (Turkey) MT-TK geni.m.8344A>G
ru-RU Russian (Russian Federation) MT-TK ген.m.8344A>G
nl-NL Dutch (Netherlands) MT-TK-gen.m.8344A>G
Synonyms: MT-TK gen.m.8344A>G