B4GALNT1 beta-1,4-N-acetyl-galactosaminyltransferase 1

Information
Symbol
B4GALNT1
Type
protein-coding
Description
beta-1,4-N-acetyl-galactosaminyltransferase 1
Entrez Gene ID
2583
Genome
hg19
Position
chr12:58,017,192-58,026,984
Genome
hg38
Position
chr12:57,623,409-57,633,201
MIM
601873 OMIM
HGNC
HGNC:4117 HGNC
Ensembl
ENSG00000135454 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 42
Likely pathogenic 0 24
Benign 0 68
Likely benign 0 216
Conflicting classifications of pathogenicity 0 8
Uncertain significance 0 272
Ranking
ClinVar
0
0
86
512
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
[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 GALGT
SYNONYM GALNACT
SYNONYM GalNAc-T
SYNONYM SPG26
MIM 601873 OMIM
HGNC HGNC:4117 HGNC
Ensembl ENSG00000135454 Ensembl
AllianceGenome HGNC:4117
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000341156.9 hg38 chr12 57,623,409 57,633,201 9,793
ENST00000418555.6 hg38 chr12 57,626,428 57,632,647 6,220
ENST00000550764.5 hg38 chr12 57,629,329 57,633,202 3,874
ENST00000449184.7 hg38 chr12 57,628,452 57,633,239 4,788
ENST00000552350.5 hg38 chr12 57,629,344 57,632,668 3,325
ENST00000341156.9 hg19 chr12 58,017,192 58,026,984 9,793
ENST00000418555.6 hg19 chr12 58,020,211 58,026,430 6,220
ENST00000449184.7 hg19 chr12 58,022,235 58,027,022 4,788
ENST00000550764.5 hg19 chr12 58,023,112 58,026,985 3,874
ENST00000552350.5 hg19 chr12 58,023,127 58,026,451 3,325
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