TBR1 T-box brain transcription factor 1

Information
Symbol
TBR1
Type
protein-coding
Description
T-box brain transcription factor 1
Entrez Gene ID
10716
Genome
hg19
Position
chr2:162,272,808-162,282,381
Genome
hg38
Position
chr2:161,416,297-161,425,870
MIM
604616 OMIM
HGNC
HGNC:11590 HGNC
Ensembl
ENSG00000136535 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 40
Likely pathogenic 0 72
Benign 0 10
Likely benign 0 76
Conflicting classifications of pathogenicity 0 4
Uncertain significance 0 234
Ranking
ClinVar
0
0
30
370
24
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 AUTS5
SYNONYM IDDAS
SYNONYM TBR-1
SYNONYM TES-56
MIM 604616 OMIM
HGNC HGNC:11590 HGNC
Ensembl ENSG00000136535 Ensembl
AllianceGenome HGNC:11590
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000410035.1 hg38 chr2 161,417,895 161,424,286 6,392
ENST00000389554.8 hg38 chr2 161,416,297 161,425,870 9,574
ENST00000389554.8 hg19 chr2 162,272,808 162,282,381 9,574
ENST00000410035.1 hg19 chr2 162,274,406 162,280,797 6,392
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