B4GAT1 beta-1,4-glucuronyltransferase 1

Information
Symbol
B4GAT1
Type
protein-coding
Description
beta-1,4-glucuronyltransferase 1
Entrez Gene ID
11041
Genome
hg19
Position
chr11:66,112,845-66,115,100
Genome
hg38
Position
chr11:66,345,374-66,347,629
MIM
605517 OMIM
HGNC
HGNC:15685 HGNC
Ensembl
ENSG00000174684 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 2 6
Likely pathogenic 0 8
Benign 0 10
Likely benign 0 180
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 184
Ranking
ClinVar
0
0
66
308
4
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 :
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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 B3GN-T1
SYNONYM B3GNT1
SYNONYM B3GNT6
SYNONYM BETA3GNTI
SYNONYM MDDGA13
SYNONYM iGAT
SYNONYM iGNT
MIM 605517 OMIM
HGNC HGNC:15685 HGNC
Ensembl ENSG00000174684 Ensembl
AllianceGenome HGNC:15685
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000311181.5 hg38 chr11 66,345,374 66,347,629 2,256
ENST00000311181.5 hg19 chr11 66,112,845 66,115,100 2,256
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