B3GALT6 beta-1,3-galactosyltransferase 6

Information
Symbol
B3GALT6
Type
protein-coding
Description
beta-1,3-galactosyltransferase 6
Entrez Gene ID
126792
Genome
hg19
Position
chr1:1,167,617-1,170,421
Genome
hg38
Position
chr1:1,232,237-1,235,041
MIM
615291 OMIM
HGNC
HGNC:17978 HGNC
Ensembl
ENSG00000176022 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 38
Likely pathogenic 11 10
Benign 0 14
Likely benign 0 216
Conflicting classifications of pathogenicity 0 42
Uncertain significance 0 330
Ranking
ClinVar
0
0
136
444
18
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 ALGAZ
SYNONYM EDSP2
SYNONYM EDSSPD2
SYNONYM SEMDJL1
SYNONYM beta3GalT6
MIM 615291 OMIM
HGNC HGNC:17978 HGNC
Ensembl ENSG00000176022 Ensembl
AllianceGenome HGNC:17978
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000379198.5 hg38 chr1 1,232,237 1,235,041 2,805
ENST00000379198.5 hg19 chr1 1,167,617 1,170,421 2,805
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