TUBB3 tubulin beta 3 class III

Information
Symbol
TUBB3
Type
protein-coding
Description
tubulin beta 3 class III
Entrez Gene ID
10381
Genome
hg19
Position
chr16:89,989,750-90,002,505
Genome
hg38
Position
chr16:89,923,342-89,936,097
MIM
602661 OMIM
HGNC
HGNC:20772 HGNC
Ensembl
ENSG00000258947 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 44
Likely pathogenic 0 60
Benign 2 66
Likely benign 0 178
Conflicting classifications of pathogenicity 0 42
not provided 0 8
Uncertain significance 0 230
Ranking
ClinVar
0
0
98
428
22
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 CDCBM
SYNONYM CDCBM1
SYNONYM CFEOM3
SYNONYM CFEOM3A
SYNONYM FEOM3
SYNONYM TUBB4
SYNONYM beta-4
MIM 602661 OMIM
HGNC HGNC:20772 HGNC
Ensembl ENSG00000258947 Ensembl
AllianceGenome HGNC:20772
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000554336.5 hg38 chr16 89,923,354 89,934,301 10,948
ENST00000553967.1 hg38 chr16 89,923,366 89,934,001 10,636
ENST00000554444.5 hg38 chr16 89,921,851 89,936,091 14,241
ENST00000315491.12 hg38 chr16 89,923,342 89,936,097 12,756
ENST00000555576.5 hg38 chr16 89,923,345 89,938,761 15,417
ENST00000554444.5 hg19 chr16 89,988,259 90,002,499 14,241
ENST00000315491.12 hg19 chr16 89,989,750 90,002,505 12,756
ENST00000555576.5 hg19 chr16 89,989,753 90,005,169 15,417
ENST00000554336.5 hg19 chr16 89,989,762 90,000,709 10,948
ENST00000553967.1 hg19 chr16 89,989,774 90,000,409 10,636
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