KDELR1 KDEL endoplasmic reticulum protein retention receptor 1

Information
Symbol
KDELR1
Type
protein-coding
Description
KDEL endoplasmic reticulum protein retention receptor 1
Entrez Gene ID
10945
Genome
hg19
Position
chr19:48,885,832-48,894,808
Genome
hg38
Position
chr19:48,382,575-48,391,551
MIM
131235 OMIM
HGNC
HGNC:6304 HGNC
Ensembl
ENSG00000105438 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Likely benign 0 2
Uncertain significance 0 16
Ranking
ClinVar
0
0
0
18
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
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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 :
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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 ERD2
SYNONYM ERD2.1
SYNONYM HDEL
SYNONYM PM23
MIM 131235 OMIM
HGNC HGNC:6304 HGNC
Ensembl ENSG00000105438 Ensembl
AllianceGenome HGNC:6304
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000597017.5 hg38 chr19 48,382,578 48,390,855 8,278
ENST00000330720.7 hg38 chr19 48,382,575 48,391,551 8,977
ENST00000330720.7 hg19 chr19 48,885,832 48,894,808 8,977
ENST00000597017.5 hg19 chr19 48,885,835 48,894,112 8,278
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