MT-TL1 mitochondrially encoded tRNA leucine 1 (UUA/G)

Gene ID: 4567, updated on 10-Oct-2023
Gene type: tRNA
Also known as: MTTL1; TRNL1

Summary

Implicated in cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
MERRF syndrome MedGen: C0162672OMIM: 545000GeneReviews: Primary Mitochondrial Disorders Overview, MERRF	See labs
Juvenile myopathy, encephalopathy, lactic acidosis AND stroke MedGen: C0162671OMIM: 540000GeneReviews: Primary Mitochondrial Disorders Overview, MELAS	See labs

Genomic context

Sequence:: Chromosome: MT; NC_012920.1 (3230..3304)

Total number of exons:: 0

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for MT-TL1 variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
Variation Viewer
Related Variants

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