LP19743-1
MT-TK gene.m.8344A>G
Active
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
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- CodeSystem lookup
- https:
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Language Variants Get Info
Tag | Language | Translation |
---|---|---|
zh-CN | Chinese (China) | MT-TK 基因.m.8344A>G Synonyms: MERFF 综合征; |
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 |
LOINC Copyright
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