TBL2 transducin beta like 2

Information
Symbol
TBL2
Type
protein-coding
Description
transducin beta like 2
Entrez Gene ID
26608
Genome
hg19
Position
chr7:72,981,867-72,992,909
Genome
hg38
Position
chr7:73,567,537-73,578,579
MIM
605842 OMIM
HGNC
HGNC:11586 HGNC
Ensembl
ENSG00000106638 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 10
Likely benign 0 24
Conflicting classifications of pathogenicity 0 2
not provided 3 0
Uncertain significance 0 58
Ranking
ClinVar
0
0
4
84
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 WBSCR13
SYNONYM WS-betaTRP
MIM 605842 OMIM
HGNC HGNC:11586 HGNC
Ensembl ENSG00000106638 Ensembl
AllianceGenome HGNC:11586
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000305632.11 hg38 chr7 73,567,537 73,578,579 11,043
ENST00000432538.5 hg38 chr7 73,570,195 73,578,336 8,142
ENST00000305632.11 hg19 chr7 72,981,867 72,992,909 11,043
ENST00000432538.5 hg19 chr7 72,984,525 72,992,666 8,142
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