TUBB4A tubulin beta 4A class IVa

Information
Symbol
TUBB4A
Type
protein-coding
Description
tubulin beta 4A class IVa
Entrez Gene ID
10382
Genome
hg19
Position
chr19:6,494,330-6,502,320
Genome
hg38
Position
chr19:6,494,319-6,502,309
MIM
602662 OMIM
HGNC
HGNC:20774 HGNC
Ensembl
ENSG00000104833 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 5 44
Likely pathogenic 3 50
Benign 0 78
Likely benign 0 224
Conflicting classifications of pathogenicity 0 22
not provided 0 22
Uncertain significance 0 172
Ranking
ClinVar
0
0
102
424
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 DYT4
SYNONYM TUBB4
SYNONYM beta-5
MIM 602662 OMIM
HGNC HGNC:20774 HGNC
Ensembl ENSG00000104833 Ensembl
AllianceGenome HGNC:20774
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000594075.6 hg38 chr19 6,495,164 6,502,309 7,146
ENST00000597686.6 hg38 chr19 6,495,164 6,502,844 7,681
ENST00000601152.5 hg38 chr19 6,495,959 6,502,338 6,380
ENST00000714086.1 hg38 chr19 6,494,384 6,502,212 7,829
ENST00000594276.6 hg38 chr19 6,495,164 6,502,309 7,146
ENST00000598006.1 hg38 chr19 6,496,016 6,502,337 6,322
ENST00000598635.2 hg38 chr19 6,495,164 6,502,803 7,640
ENST00000264071.7 hg38 chr19 6,494,319 6,502,309 7,991
ENST00000596291.2 hg38 chr19 6,495,164 6,501,787 6,624
ENST00000596926.5 hg38 chr19 6,496,142 6,502,309 6,168
ENST00000264071.7 hg19 chr19 6,494,330 6,502,320 7,991
ENST00000714086.1 hg19 chr19 6,494,395 6,502,223 7,829
ENST00000596291.2 hg19 chr19 6,495,175 6,501,798 6,624
ENST00000594075.6 hg19 chr19 6,495,175 6,502,320 7,146
ENST00000594276.6 hg19 chr19 6,495,175 6,502,320 7,146
ENST00000598635.2 hg19 chr19 6,495,175 6,502,814 7,640
ENST00000597686.6 hg19 chr19 6,495,175 6,502,855 7,681
ENST00000601152.5 hg19 chr19 6,495,970 6,502,349 6,380
ENST00000598006.1 hg19 chr19 6,496,027 6,502,348 6,322
ENST00000596926.5 hg19 chr19 6,496,153 6,502,320 6,168
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