TUBA1A tubulin alpha 1a

Information
Symbol
TUBA1A
Type
protein-coding
Description
tubulin alpha 1a
Entrez Gene ID
7846
Genome
hg19
Position
chr12:49,578,554-49,583,107
Genome
hg38
Position
chr12:49,184,771-49,189,324
MIM
602529 OMIM
HGNC
HGNC:20766 HGNC
Ensembl
ENSG00000167552 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 18 178
Likely pathogenic 2 232
Benign 4 40
Likely benign 0 162
Conflicting classifications of pathogenicity 0 52
not provided 0 2
Uncertain significance 0 134
Ranking
ClinVar
0
0
206
432
26
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 B-ALPHA-1
SYNONYM LIS3
SYNONYM TUBA3
MIM 602529 OMIM
HGNC HGNC:20766 HGNC
Ensembl ENSG00000167552 Ensembl
AllianceGenome HGNC:20766
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000295766.9 hg38 chr12 49,184,959 49,188,899 3,941
ENST00000547939.6 hg38 chr12 49,184,771 49,187,404 2,634
ENST00000552924.2 hg38 chr12 49,184,771 49,189,078 4,308
ENST00000550767.6 hg38 chr12 49,184,771 49,189,066 4,296
ENST00000679733.1 hg38 chr12 49,184,686 49,189,078 4,393
ENST00000301071.12 hg38 chr12 49,184,795 49,189,080 4,286
ENST00000546918.1 hg38 chr12 49,185,621 49,189,066 3,446
ENST00000715688.1 hg38 chr12 49,184,771 49,189,324 4,554
ENST00000679733.1 hg19 chr12 49,578,469 49,582,861 4,393
ENST00000547939.6 hg19 chr12 49,578,554 49,581,187 2,634
ENST00000550767.6 hg19 chr12 49,578,554 49,582,849 4,296
ENST00000552924.2 hg19 chr12 49,578,554 49,582,861 4,308
ENST00000715688.1 hg19 chr12 49,578,554 49,583,107 4,554
ENST00000301071.12 hg19 chr12 49,578,578 49,582,863 4,286
ENST00000295766.9 hg19 chr12 49,578,742 49,582,682 3,941
ENST00000546918.1 hg19 chr12 49,579,404 49,582,849 3,446
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