ERP27 endoplasmic reticulum protein 27

Information
Symbol
ERP27
Type
protein-coding
Description
endoplasmic reticulum protein 27
Entrez Gene ID
121506
Genome
hg19
Position
chr12:15,066,973-15,091,471
Genome
hg38
Position
chr12:14,914,039-14,938,537
MIM
610642 OMIM
HGNC
HGNC:26495 HGNC
Ensembl
ENSG00000139055 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 36
Ranking
ClinVar
0
0
0
38
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 :
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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 C12orf46
SYNONYM PDIA8
MIM 610642 OMIM
HGNC HGNC:26495 HGNC
Ensembl ENSG00000139055 Ensembl
AllianceGenome HGNC:26495
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000266397.7 hg38 chr12 14,914,039 14,938,537 24,499
ENST00000540097.1 hg38 chr12 14,914,412 14,929,125 14,714
ENST00000266397.7 hg19 chr12 15,066,973 15,091,471 24,499
ENST00000540097.1 hg19 chr12 15,067,346 15,082,059 14,714
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