POGLUT3 protein O-glucosyltransferase 3

Information
Symbol
POGLUT3
Type
protein-coding
Description
protein O-glucosyltransferase 3
Entrez Gene ID
143888
Genome
hg19
Position
chr11:108,342,843-108,369,111
Genome
hg38
Position
chr11:108,472,116-108,498,384
MIM
618503 OMIM
HGNC
HGNC:28496 HGNC
Ensembl
ENSG00000178202 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
72
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
[No Data.]
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 KDELC2
MIM 618503 OMIM
HGNC HGNC:28496 HGNC
Ensembl ENSG00000178202 Ensembl
AllianceGenome HGNC:28496
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000706524.1 hg38 chr11 108,472,157 108,498,366 26,210
ENST00000706523.1 hg38 chr11 108,472,156 108,498,405 26,250
ENST00000323468.10 hg38 chr11 108,472,116 108,498,384 26,269
ENST00000434945.6 hg38 chr11 108,472,112 108,491,504 19,393
ENST00000434945.6 hg19 chr11 108,342,839 108,362,231 19,393
ENST00000323468.10 hg19 chr11 108,342,843 108,369,111 26,269
ENST00000706523.1 hg19 chr11 108,342,883 108,369,132 26,250
ENST00000706524.1 hg19 chr11 108,342,884 108,369,093 26,210
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