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 | |
|---|---|
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0 |
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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 | : |
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| 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
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| Category | : |
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| 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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | RAGE |
| SYNONYM | SCARJ1 |
| SYNONYM | sRAGE |
| MIM | 600214 OMIM |
| HGNC | HGNC:320 HGNC |
| Ensembl | ENSG00000204305 Ensembl |
| AllianceGenome | HGNC:320 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| 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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