CR1 complement C3b/C4b receptor 1 (Knops blood group)
Information
- Symbol
- CR1
- Type
- protein-coding
- Description
- complement C3b/C4b receptor 1 (Knops blood group)
- Entrez Gene ID
- 1378
- Genome
- hg19
- Position
- chr1:207,669,502-207,815,110
- Genome
- hg38
- Position
- chr1:207,496,157-207,641,765
- MIM
- 120620 OMIM
- HGNC
- HGNC:2334 HGNC
- Ensembl
- ENSG00000203710 Ensembl
- Links
- NCBI Gene Cards OncoKB
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Benign | 42 | 20 |
| Likely benign | 0 | 34 |
| Conflicting classifications of pathogenicity | 0 | 8 |
| not provided | 1 | 0 |
| Uncertain significance | 0 | 162 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
6 |
 |
210 |
 |
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
Locus Zoom
Variants
Search Word
| Target data | : |
MGeND data only
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| 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
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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 | C3BR |
| SYNONYM | C4BR |
| SYNONYM | CD35 |
| SYNONYM | KN |
| MIM | 120620 OMIM |
| HGNC | HGNC:2334 HGNC |
| Ensembl | ENSG00000203710 Ensembl |
| AllianceGenome | HGNC:2334 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000367051.6 | hg38 | chr1 | 207,496,243 | 207,640,212 | 143,970 |
| ENST00000367053.6 | hg38 | chr1 | 207,496,243 | 207,640,212 | 143,970 |
| ENST00000367052.6 | hg38 | chr1 | 207,496,243 | 207,640,212 | 143,970 |
| ENST00000367049.9 | hg38 | chr1 | 207,496,157 | 207,641,765 | 145,609 |
| ENST00000400960.7 | hg38 | chr1 | 207,496,147 | 207,641,765 | 145,619 |
| ENST00000400960.7 | hg19 | chr1 | 207,669,492 | 207,815,110 | 145,619 |
| ENST00000367049.9 | hg19 | chr1 | 207,669,502 | 207,815,110 | 145,609 |
| ENST00000367051.6 | hg19 | chr1 | 207,669,588 | 207,813,557 | 143,970 |
| ENST00000367052.6 | hg19 | chr1 | 207,669,588 | 207,813,557 | 143,970 |
| ENST00000367053.6 | hg19 | chr1 | 207,669,588 | 207,813,557 | 143,970 |
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