TUBA4A tubulin alpha 4a

Information
Symbol
TUBA4A
Type
protein-coding
Description
tubulin alpha 4a
Entrez Gene ID
7277
Genome
hg19
Position
chr2:220,114,432-220,118,640
Genome
hg38
Position
chr2:219,249,710-219,253,918
MIM
191110 OMIM
HGNC
HGNC:12407 HGNC
Ensembl
ENSG00000127824 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 10
Likely pathogenic 0 8
Benign 0 34
Likely benign 0 74
no classification for the single variant 0 2
Uncertain significance 0 30
Ranking
ClinVar
0
0
16
122
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
[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 ALS22
SYNONYM H2-ALPHA
SYNONYM TUBA1
MIM 191110 OMIM
HGNC HGNC:12407 HGNC
Ensembl ENSG00000127824 Ensembl
AllianceGenome HGNC:12407
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000248437.9 hg38 chr2 219,249,710 219,253,918 4,209
ENST00000392088.6 hg38 chr2 219,249,711 219,254,608 4,898
ENST00000248437.9 hg19 chr2 220,114,432 220,118,640 4,209
ENST00000392088.6 hg19 chr2 220,114,433 220,119,330 4,898
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