MT-TL1 gene homepage

MSeqDR-LSDB: Mitochondrial Disease LSDB
General information
Gene symbol MT-TL1
Gene name mitochondrially encoded tRNA leucine 1 (UUA/G)
Chromosome M
Chromosomal band M
Imprinted
Genomic reference NC_012920.1
Transcript reference MT-TL1-201
Associated with diseases 220110, CVS, KSS, MELAS SYNDROME, MERRF, MIDD
Citation reference(s) -
Curators (0) -
Total number of public variants reported 34
Unique public DNA variants reported 34
Individuals with public variants 0
Hidden variants 0
Download all this gene's data Download all data
Notes MSeqDR-LSDB
Date created November 12, 2013
Date last updated November 30, -0001
Version MT-TL1:-11130

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
UCSC Genome Browser Show variants in the UCSC Genome Browser (full view, compact view)
Ensembl Genome Browser Show variants in the Ensembl Genome Browser (full view, compact view)
NCBI Sequence Viewer Show distribution histogram of variants in the NCBI Sequence Viewer

Links to other resources
HGNC 7490
Entrez Gene 4567
PubMed articles MT-TL1
OMIM - Gene 590050
OMIM - Diseases 220110 (Mitochondrial complex IV deficiency, 220110 (3))
CVS (CYCLIC VOMITING SYNDROME)
KSS (KEARNS-SAYRE SYNDROME, caused by various mitochondrial deletions)
MELAS SYNDROME (MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES)
MERRF (MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS)
MIDD (DIABETES AND DEAFNESS, MATERNALLY INHERITED)
HGMD MT-TL1
GeneCards MT-TL1
GeneTests MT-TL1


Active transcripts


ID     

Chr     

Name     

NCBI ID     

NCBI Protein ID     

DescendingVariants     
00001320 M MT-TL1-201 MT-TL1-201 - 34


Copyright & disclaimer
Mitochondria chromosome located genes from HGNC

Mitochondrial Disease Sequence Data Resource (MSeqDR) Consortium