TKTL1 transketolase like 1

Information
Symbol
TKTL1
Type
protein-coding
Description
transketolase like 1
Entrez Gene ID
8277
Genome
hg19
Position
chrX:153,524,148-153,558,700
Genome
hg38
Position
chrX:154,295,795-154,330,350
MIM
300044 OMIM
HGNC
HGNC:11835 HGNC
Ensembl
ENSG00000007350 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
not provided 8 0
Uncertain significance 0 46
Ranking
ClinVar
0
0
0
50
0
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 TKR
SYNONYM TKT2
MIM 300044 OMIM
HGNC HGNC:11835 HGNC
Ensembl ENSG00000007350 Ensembl
AllianceGenome HGNC:11835
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000369915.8 hg38 chrX 154,295,795 154,330,350 34,556
ENST00000369912.2 hg38 chrX 154,305,057 154,330,350 25,294
ENST00000369915.8 hg19 chrX 153,524,148 153,558,700 34,553
ENST00000369912.2 hg19 chrX 153,533,409 153,558,700 25,292
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