TBX4 T-box transcription factor 4

Information
Symbol
TBX4
Type
protein-coding
Description
T-box transcription factor 4
Entrez Gene ID
9496
Genome
hg19
Position
chr17:59,529,783-59,562,471
Genome
hg38
Position
chr17:61,452,422-61,485,110
MIM
601719 OMIM
HGNC
HGNC:11603 HGNC
Ensembl
ENSG00000121075 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 60
Likely pathogenic 0 60
Benign 0 108
Likely benign 0 78
Conflicting classifications of pathogenicity 0 18
not provided 0 62
Uncertain significance 0 168
Ranking
ClinVar
0
0
80
332
32
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 ICPPS
SYNONYM PAPPAS
SYNONYM SPS
MIM 601719 OMIM
HGNC HGNC:11603 HGNC
Ensembl ENSG00000121075 Ensembl
AllianceGenome HGNC:11603
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000642491.1 hg38 chr17 61,456,464 61,483,997 27,534
ENST00000240335.1 hg38 chr17 61,456,446 61,484,303 27,858
ENST00000644296.1 hg38 chr17 61,452,422 61,485,110 32,689
ENST00000644296.1 hg19 chr17 59,529,783 59,562,471 32,689
ENST00000240335.1 hg19 chr17 59,533,807 59,561,664 27,858
ENST00000642491.1 hg19 chr17 59,533,825 59,561,358 27,534
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