B3GAT3 beta-1,3-glucuronyltransferase 3

Information
Symbol
B3GAT3
Type
protein-coding
Description
beta-1,3-glucuronyltransferase 3
Entrez Gene ID
26229
Genome
hg19
Position
chr11:62,382,768-62,389,458
Genome
hg38
Position
chr11:62,615,296-62,621,986
MIM
606374 OMIM
HGNC
HGNC:923 HGNC
Ensembl
ENSG00000149541 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 40
Likely pathogenic 0 26
Benign 0 24
Likely benign 2 176
Conflicting classifications of pathogenicity 0 10
Uncertain significance 0 210
Ranking
ClinVar
0
0
92
358
8
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 GLCATI
SYNONYM JDSCD
SYNONYM glcUAT-I
MIM 606374 OMIM
HGNC HGNC:923 HGNC
Ensembl ENSG00000149541 Ensembl
AllianceGenome HGNC:923
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000265471.10 hg38 chr11 62,615,296 62,621,986 6,691
ENST00000534026.5 hg38 chr11 62,616,067 62,621,984 5,918
ENST00000531383.5 hg38 chr11 62,615,297 62,622,154 6,858
ENST00000265471.10 hg19 chr11 62,382,768 62,389,458 6,691
ENST00000531383.5 hg19 chr11 62,382,769 62,389,626 6,858
ENST00000534026.5 hg19 chr11 62,383,539 62,389,456 5,918
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