COG3 component of oligomeric golgi complex 3

Information
Symbol
COG3
Type
protein-coding
Description
component of oligomeric golgi complex 3
Entrez Gene ID
83548
Genome
hg19
Position
chr13:46,039,074-46,110,836
Genome
hg38
Position
chr13:45,464,939-45,536,701
MIM
606975 OMIM
HGNC
HGNC:18619 HGNC
Ensembl
ENSG00000136152 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 4
Likely benign 0 4
Uncertain significance 0 70
Ranking
ClinVar
0
0
0
74
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 :
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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 CDG2BB
SYNONYM SEC34
MIM 606975 OMIM
HGNC HGNC:18619 HGNC
Ensembl ENSG00000136152 Ensembl
AllianceGenome HGNC:18619
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000349995.10 hg38 chr13 45,464,939 45,536,701 71,763
ENST00000617493.1 hg38 chr13 45,465,005 45,493,936 28,932
ENST00000349995.10 hg19 chr13 46,039,074 46,110,836 71,763
ENST00000617493.1 hg19 chr13 46,039,140 46,068,071 28,932
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