COPB1 COPI coat complex subunit beta 1

Information
Symbol
COPB1
Type
protein-coding
Description
COPI coat complex subunit beta 1
Entrez Gene ID
1315
Genome
hg19
Position
chr11:14,479,052-14,521,398
Genome
hg38
Position
chr11:14,457,506-14,499,852
MIM
600959 OMIM
HGNC
HGNC:2231 HGNC
Ensembl
ENSG00000129083 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 6
Likely pathogenic 0 2
Benign 0 2
Likely benign 0 18
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 80
Ranking
ClinVar
0
0
2
100
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 BARMACS
SYNONYM COPB
MIM 600959 OMIM
HGNC HGNC:2231 HGNC
Ensembl ENSG00000129083 Ensembl
AllianceGenome HGNC:2231
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000439561.7 hg38 chr11 14,457,512 14,499,811 42,300
ENST00000249923.7 hg38 chr11 14,457,506 14,499,852 42,347
ENST00000249923.7 hg19 chr11 14,479,052 14,521,398 42,347
ENST00000439561.7 hg19 chr11 14,479,058 14,521,357 42,300
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