B3GLCT beta 3-glucosyltransferase

Information
Symbol
B3GLCT
Type
protein-coding
Description
beta 3-glucosyltransferase
Entrez Gene ID
145173
Genome
hg19
Position
chr13:31,774,112-31,906,413
Genome
hg38
Position
chr13:31,199,975-31,332,276
MIM
610308 OMIM
HGNC
HGNC:20207 HGNC
Ensembl
ENSG00000187676 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 22
Likely pathogenic 0 20
Benign 0 122
Likely benign 0 144
Conflicting classifications of pathogenicity 0 24
not provided 0 4
Uncertain significance 0 246
Ranking
ClinVar
0
0
84
444
6
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 B3GALTL
SYNONYM B3GTL
SYNONYM B3Glc-T
SYNONYM Gal-T
SYNONYM beta3Glc-T
MIM 610308 OMIM
HGNC HGNC:20207 HGNC
Ensembl ENSG00000187676 Ensembl
AllianceGenome HGNC:20207
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000343307.5 hg38 chr13 31,199,975 31,332,276 132,302
ENST00000343307.5 hg19 chr13 31,774,112 31,906,413 132,302
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