TUFM Tu translation elongation factor, mitochondrial

Information
Symbol
TUFM
Type
protein-coding
Description
Tu translation elongation factor, mitochondrial
Entrez Gene ID
7284
Genome
hg19
Position
chr16:28,853,732-28,857,669
Genome
hg38
Position
chr16:28,842,411-28,846,348
MIM
602389 OMIM
HGNC
HGNC:12420 HGNC
Ensembl
ENSG00000178952 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 4
Likely pathogenic 0 6
Benign 0 28
Likely benign 0 128
Conflicting classifications of pathogenicity 0 36
not provided 1 0
Uncertain significance 0 172
Ranking
ClinVar
0
0
52
274
4
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 COXPD4
SYNONYM EF-TuMT
SYNONYM EFTU
SYNONYM P43
MIM 602389 OMIM
HGNC HGNC:12420 HGNC
Ensembl ENSG00000178952 Ensembl
AllianceGenome HGNC:12420
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000313511.8 hg38 chr16 28,842,411 28,846,348 3,938
ENST00000313511.8 hg19 chr16 28,853,732 28,857,669 3,938
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