GBX2 gastrulation brain homeobox 2

Information
Symbol
GBX2
Type
protein-coding
Description
gastrulation brain homeobox 2
Entrez Gene ID
2637
Genome
hg19
Position
chr2:237,073,879-237,077,029
Genome
hg38
Position
chr2:236,165,236-236,168,386
MIM
601135 OMIM
HGNC
HGNC:4186 HGNC
Ensembl
ENSG00000168505 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Uncertain significance 0 32
Ranking
ClinVar
0
0
0
36
0
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
MIM 601135 OMIM
HGNC HGNC:4186 HGNC
Ensembl ENSG00000168505 Ensembl
AllianceGenome HGNC:4186
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000551105.1 hg38 chr2 236,165,729 236,168,009 2,281
ENST00000306318.5 hg38 chr2 236,165,236 236,168,386 3,151
ENST00000306318.5 hg19 chr2 237,073,879 237,077,029 3,151
ENST00000551105.1 hg19 chr2 237,074,372 237,076,652 2,281
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