COLGALT1 collagen beta(1-O)galactosyltransferase 1

Information
Symbol
COLGALT1
Type
protein-coding
Description
collagen beta(1-O)galactosyltransferase 1
Entrez Gene ID
79709
Genome
hg19
Position
chr19:17,666,458-17,693,966
Genome
hg38
Position
chr19:17,555,649-17,583,157
MIM
617531 OMIM
HGNC
HGNC:26182 HGNC
Ensembl
ENSG00000130309 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 4 12
Likely pathogenic 0 2
Benign 0 32
Likely benign 0 138
Conflicting classifications of pathogenicity 0 6
Uncertain significance 0 230
Ranking
ClinVar
0
0
52
340
14
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 BSVD3
SYNONYM ColGalT 1
SYNONYM GLT25D1
MIM 617531 OMIM
HGNC HGNC:26182 HGNC
Ensembl ENSG00000130309 Ensembl
AllianceGenome HGNC:26182
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000252599.9 hg38 chr19 17,555,649 17,583,157 27,509
ENST00000252599.9 hg19 chr19 17,666,458 17,693,966 27,509
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