TBX19 T-box transcription factor 19

Information
Symbol
TBX19
Type
protein-coding
Description
T-box transcription factor 19
Entrez Gene ID
9095
Genome
hg19
Position
chr1:168,250,115-168,283,664
Genome
hg38
Position
chr1:168,280,877-168,314,426
MIM
604614 OMIM
HGNC
HGNC:11596 HGNC
Ensembl
ENSG00000143178 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 10
Benign 0 50
Likely benign 0 48
Conflicting classifications of pathogenicity 0 18
Uncertain significance 0 148
Ranking
ClinVar
0
0
36
210
22
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 TBS19
SYNONYM TPIT
SYNONYM dJ747L4.1
MIM 604614 OMIM
HGNC HGNC:11596 HGNC
Ensembl ENSG00000143178 Ensembl
AllianceGenome HGNC:11596
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000367821.8 hg38 chr1 168,280,877 168,314,426 33,550
ENST00000367821.8 hg19 chr1 168,250,115 168,283,664 33,550
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