TSFM Ts translation elongation factor, mitochondrial

Information
Symbol
TSFM
Type
protein-coding
Description
Ts translation elongation factor, mitochondrial
Entrez Gene ID
10102
Genome
hg19
Position
chr12:58,176,559-58,190,517
Genome
hg38
Position
chr12:57,782,776-57,796,734
MIM
604723 OMIM
HGNC
HGNC:12367 HGNC
Ensembl
ENSG00000123297 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 80
Likely pathogenic 0 76
Benign 0 56
Likely benign 0 516
Conflicting classifications of pathogenicity 0 32
Uncertain significance 0 362
Ranking
ClinVar
0
0
120
928
6
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EFTS
SYNONYM EFTSMT
MIM 604723 OMIM
HGNC HGNC:12367 HGNC
Ensembl ENSG00000123297 Ensembl
AllianceGenome HGNC:12367
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000323833.12 hg38 chr12 57,782,776 57,796,734 13,959
ENST00000548851.5 hg38 chr12 57,782,787 57,808,071 25,285
ENST00000652027.2 hg38 chr12 57,782,787 57,797,587 14,801
ENST00000543727.5 hg38 chr12 57,782,799 57,802,631 19,833
ENST00000550559.5 hg38 chr12 57,782,787 57,802,774 19,988
ENST00000540550.6 hg38 chr12 57,782,761 57,797,587 14,827
ENST00000540550.6 hg19 chr12 58,176,544 58,191,370 14,827
ENST00000323833.12 hg19 chr12 58,176,559 58,190,517 13,959
ENST00000652027.2 hg19 chr12 58,176,570 58,191,370 14,801
ENST00000550559.5 hg19 chr12 58,176,570 58,196,557 19,988
ENST00000548851.5 hg19 chr12 58,176,570 58,201,854 25,285
ENST00000543727.5 hg19 chr12 58,176,582 58,196,414 19,833
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