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
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MGeND data only
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| 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
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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 | |||||||||||||||
| Type | ID |
|---|---|
| SYNONYM | ERD2 |
| SYNONYM | ERD2.1 |
| SYNONYM | HDEL |
| SYNONYM | PM23 |
| MIM | 131235 OMIM |
| HGNC | HGNC:6304 HGNC |
| Ensembl | ENSG00000105438 Ensembl |
| AllianceGenome | HGNC:6304 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| 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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