AGER advanced glycosylation end-product specific receptor

Information
Symbol
AGER
Type
protein-coding
Description
advanced glycosylation end-product specific receptor
Entrez Gene ID
177
Genome
hg19
Position
chr6:32,148,745-32,152,099
Genome
hg38
Position
chr6:32,180,968-32,184,322
MIM
600214 OMIM
HGNC
HGNC:320 HGNC
Ensembl
ENSG00000204305 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 8
Likely benign 0 14
Conflicting classifications of pathogenicity 0 4
Likely risk allele 0 2
not provided 1 0
Uncertain significance 0 54
Ranking
ClinVar
0
0
0
70
8
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
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 RAGE
SYNONYM SCARJ1
SYNONYM sRAGE
MIM 600214 OMIM
HGNC HGNC:320 HGNC
Ensembl ENSG00000204305 Ensembl
AllianceGenome HGNC:320
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000538695.2 hg38 chr6 32,183,409 32,184,322 914
ENST00000375055.6 hg38 chr6 32,180,968 32,184,246 3,279
ENST00000375070.7 hg38 chr6 32,180,968 32,184,322 3,355
ENST00000375076.9 hg38 chr6 32,180,969 32,184,253 3,285
ENST00000375069.7 hg38 chr6 32,180,968 32,184,322 3,355
ENST00000375067.7 hg38 chr6 32,180,968 32,184,237 3,270
ENST00000438221.6 hg38 chr6 32,180,968 32,184,322 3,355
ENST00000375067.7 hg19 chr6 32,148,745 32,152,014 3,270
ENST00000375055.6 hg19 chr6 32,148,745 32,152,023 3,279
ENST00000375069.7 hg19 chr6 32,148,745 32,152,099 3,355
ENST00000375070.7 hg19 chr6 32,148,745 32,152,099 3,355
ENST00000438221.6 hg19 chr6 32,148,745 32,152,099 3,355
ENST00000375076.9 hg19 chr6 32,148,746 32,152,030 3,285
ENST00000538695.2 hg19 chr6 32,151,186 32,152,099 914
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