COG1 component of oligomeric golgi complex 1

Information
Symbol
COG1
Type
protein-coding
Description
component of oligomeric golgi complex 1
Entrez Gene ID
9382
Genome
hg19
Position
chr17:71,189,194-71,204,646
Genome
hg38
Position
chr17:73,193,055-73,208,507
MIM
606973 OMIM
HGNC
HGNC:6545 HGNC
Ensembl
ENSG00000166685 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 10
Benign 0 74
Likely benign 0 254
Conflicting classifications of pathogenicity 0 40
Uncertain significance 0 440
Ranking
ClinVar
0
0
140
632
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 CDG2G
SYNONYM LDLB
MIM 606973 OMIM
HGNC HGNC:6545 HGNC
Ensembl ENSG00000166685 Ensembl
AllianceGenome HGNC:6545
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000299886.9 hg38 chr17 73,193,055 73,208,507 15,453
ENST00000299886.9 hg19 chr17 71,189,194 71,204,646 15,453
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