TKT transketolase

Information
Symbol
TKT
Type
protein-coding
Description
transketolase
Entrez Gene ID
7086
Genome
hg19
Position
chr3:53,259,673-53,290,038
Genome
hg38
Position
chr3:53,225,657-53,256,022
MIM
606781 OMIM
HGNC
HGNC:11834 HGNC
Ensembl
ENSG00000163931 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 4
Benign 0 30
Likely benign 0 40
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 82
Ranking
ClinVar
0
0
8
146
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
[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 HEL-S-48
SYNONYM HEL107
SYNONYM SDDHD
SYNONYM TK
SYNONYM TKT1
MIM 606781 OMIM
HGNC HGNC:11834 HGNC
Ensembl ENSG00000163931 Ensembl
AllianceGenome HGNC:11834
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000423516.5 hg38 chr3 53,225,657 53,256,022 30,366
ENST00000462138.6 hg38 chr3 53,224,712 53,256,022 31,311
ENST00000423525.6 hg38 chr3 53,224,714 53,256,000 31,287
ENST00000462138.6 hg19 chr3 53,258,728 53,290,038 31,311
ENST00000423525.6 hg19 chr3 53,258,730 53,290,016 31,287
ENST00000423516.5 hg19 chr3 53,259,673 53,290,038 30,366
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