TUBB tubulin beta class I

Information
Symbol
TUBB
Type
protein-coding
Description
tubulin beta class I
Entrez Gene ID
203068
Genome
hg19
Position
chr6:30,688,129-30,693,199
Genome
hg38
Position
chr6:30,720,352-30,725,422
MIM
191130 OMIM
HGNC
HGNC:20778 HGNC
Ensembl
ENSG00000196230 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 38
Benign 0 28
Likely benign 0 20
Conflicting classifications of pathogenicity 0 8
no classification for the single variant 0 4
not provided 4 0
Uncertain significance 0 60
Ranking
ClinVar
0
0
20
134
10
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 CDCBM6
SYNONYM CSCSC1
SYNONYM M40
SYNONYM OK/SW-cl.56
SYNONYM TUBB1
SYNONYM TUBB5
MIM 191130 OMIM
HGNC HGNC:20778 HGNC
Ensembl ENSG00000196230 Ensembl
AllianceGenome HGNC:20778
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000327892.13 hg38 chr6 30,720,352 30,725,422 5,071
ENST00000330914.7 hg38 chr6 30,721,574 30,725,426 3,853
ENST00000396389.5 hg38 chr6 30,721,667 30,725,426 3,760
ENST00000396384.1 hg38 chr6 30,721,699 30,725,426 3,728
ENST00000681435.1 hg38 chr6 30,717,435 30,725,538 8,104
ENST00000681435.1 hg19 chr6 30,685,212 30,693,315 8,104
ENST00000327892.13 hg19 chr6 30,688,129 30,693,199 5,071
ENST00000330914.7 hg19 chr6 30,689,351 30,693,203 3,853
ENST00000396389.5 hg19 chr6 30,689,444 30,693,203 3,760
ENST00000396384.1 hg19 chr6 30,689,476 30,693,203 3,728
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