B3GNTL1 UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1

Information
Symbol
B3GNTL1
Type
protein-coding
Description
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase like 1
Entrez Gene ID
146712
Genome
hg19
Position
chr17:80,900,025-81,009,646
Genome
hg38
Position
chr17:82,942,149-83,051,770
MIM
615337 OMIM
HGNC
HGNC:21727 HGNC
Ensembl
ENSG00000175711 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 28
not provided 1 0
Uncertain significance 0 58
Ranking
ClinVar
0
0
0
88
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
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 3-Gn-T8
SYNONYM B3GNT8
SYNONYM BGnT-8
SYNONYM QTGAL
SYNONYM beta-1
SYNONYM beta3Gn-T8
SYNONYM beta3GnTL1
MIM 615337 OMIM
HGNC HGNC:21727 HGNC
Ensembl ENSG00000175711 Ensembl
AllianceGenome HGNC:21727
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000576599.5 hg38 chr17 82,943,791 83,049,166 105,376
ENST00000320865.4 hg38 chr17 82,942,149 83,051,770 109,622
ENST00000320865.4 hg19 chr17 80,900,025 81,009,646 109,622
ENST00000576599.5 hg19 chr17 80,901,667 81,007,042 105,376
Genome browser