The TSFM gene homepage

General information
Gene symbol TSFM
Gene name Ts translation elongation factor, mitochondrial
Chromosome 12
Chromosomal band q14.1
Imprinted Unknown
Genomic reference NG_016971.1
Transcript reference NM_001172696.1
Exon/intron information NM_001172696.1 exon/intron table
Associated with diseases COXPD3
Citation reference(s) -
Refseq URL Genomic reference sequence
Curators (1) Global Variome, with Curator vacancy
Total number of public variants reported 19
Unique public DNA variants reported 19
Individuals with public variants 4
Hidden variants 2
Notes The establishment of this gene variant database (LSDB) was supported by the European Community's Seventh Framework Programme (FP7/2007-2013) under grant agreement nยบ 200754 - the GEN2PHEN project.
Date created April 05, 2011
Date last updated February 15, 2023
Version TSFM:230215

Graphical displays and utilities
Graphs Graphs displaying summary information of all variants in the database »
Reading frame checker The Reading-frame checker generates a prediction of the effect of whole-exon changes. Active for: NM_001172696.1.
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 12367
Entrez Gene 10102
PubMed articles TSFM
OMIM - Gene 604723
OMIM - Diseases COXPD3 (combined oxidative phosphorylation deficiency, type 3 (COXPD-3))
GeneCards TSFM
GeneTests TSFM
Orphanet TSFM

Active transcripts




NCBI ID     

NCBI Protein ID     

00024122 12 transcript variant 1 NM_001172696.1 NP_001166167.1 19

Copyright & disclaimer
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