TUBB6 tubulin beta 6 class V

Information
Symbol
TUBB6
Type
protein-coding
Description
tubulin beta 6 class V
Entrez Gene ID
84617
Genome
hg19
Position
chr18:12,308,240-12,326,615
Genome
hg38
Position
chr18:12,308,241-12,326,616
MIM
615103 OMIM
HGNC
HGNC:20776 HGNC
Ensembl
ENSG00000176014 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 2
Benign 0 32
Likely benign 0 20
Conflicting classifications of pathogenicity 0 4
no classification for the single variant 0 2
Uncertain significance 0 88
Ranking
ClinVar
0
0
20
120
2
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 FPVEPD
SYNONYM HsT1601
SYNONYM TUBB-5
MIM 615103 OMIM
HGNC HGNC:20776 HGNC
Ensembl ENSG00000176014 Ensembl
AllianceGenome HGNC:20776
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000592683.5 hg38 chr18 12,308,247 12,325,124 16,878
ENST00000317702.10 hg38 chr18 12,308,241 12,326,616 18,376
ENST00000591909.5 hg38 chr18 12,308,234 12,329,826 21,593
ENST00000590967.5 hg38 chr18 12,308,253 12,337,225 28,973
ENST00000586653.5 hg38 chr18 12,308,241 12,325,267 17,027
ENST00000591208.1 hg38 chr18 12,308,262 12,326,332 18,071
ENST00000591909.5 hg19 chr18 12,308,233 12,329,825 21,593
ENST00000586653.5 hg19 chr18 12,308,240 12,325,266 17,027
ENST00000317702.10 hg19 chr18 12,308,240 12,326,615 18,376
ENST00000592683.5 hg19 chr18 12,308,246 12,325,123 16,878
ENST00000590967.5 hg19 chr18 12,308,252 12,337,224 28,973
ENST00000591208.1 hg19 chr18 12,308,261 12,326,331 18,071
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