CXCR4 C-X-C motif chemokine receptor 4
Information
Clinical Significance
| MGeND | ClinVar | |
|---|---|---|
| Pathogenic | 2 | 26 |
| Likely pathogenic | 0 | 10 |
| Benign | 2 | 22 |
| Likely benign | 0 | 102 |
| Conflicting classifications of pathogenicity | 0 | 10 |
| not provided | 4 | 0 |
| Uncertain significance | 0 | 156 |
Ranking
| ClinVar | |
|---|---|
 |
0 |
 |
0 |
 |
42 |
 |
268 |
 |
2 |
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 | : |
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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 | CD184 |
| SYNONYM | D2S201E |
| SYNONYM | FB22 |
| SYNONYM | HM89 |
| SYNONYM | HSY3RR |
| SYNONYM | LAP-3 |
| SYNONYM | LAP3 |
| SYNONYM | LCR1 |
| SYNONYM | LESTR |
| SYNONYM | NPY3R |
| SYNONYM | NPYR |
| SYNONYM | NPYRL |
| SYNONYM | NPYY3R |
| SYNONYM | WHIM |
| SYNONYM | WHIMS |
| SYNONYM | WHIMS1 |
| MIM | 162643 OMIM |
| HGNC | HGNC:2561 HGNC |
| Ensembl | ENSG00000121966 Ensembl |
| AllianceGenome | HGNC:2561 |
| Descrption | Source | Links |
|---|
| ID | Genome | Chromosome | Start | End | Length |
|---|---|---|---|---|---|
| ENST00000696137.1 | hg38 | chr2 | 136,114,349 | 136,117,882 | 3,534 |
| ENST00000696152.1 | hg38 | chr2 | 136,114,349 | 136,118,149 | 3,801 |
| ENST00000409817.1 | hg38 | chr2 | 136,114,349 | 136,116,243 | 1,895 |
| ENST00000696228.1 | hg38 | chr2 | 136,114,349 | 136,119,177 | 4,829 |
| ENST00000241393.4 | hg38 | chr2 | 136,114,349 | 136,118,149 | 3,801 |
| ENST00000696136.1 | hg38 | chr2 | 136,114,349 | 136,116,549 | 2,201 |
| ENST00000466288.1 | hg38 | chr2 | 136,114,637 | 136,117,737 | 3,101 |
| ENST00000409817.1 | hg19 | chr2 | 136,871,919 | 136,873,813 | 1,895 |
| ENST00000696136.1 | hg19 | chr2 | 136,871,919 | 136,874,119 | 2,201 |
| ENST00000696137.1 | hg19 | chr2 | 136,871,919 | 136,875,452 | 3,534 |
| ENST00000241393.4 | hg19 | chr2 | 136,871,919 | 136,875,719 | 3,801 |
| ENST00000696152.1 | hg19 | chr2 | 136,871,919 | 136,875,719 | 3,801 |
| ENST00000696228.1 | hg19 | chr2 | 136,871,919 | 136,876,747 | 4,829 |
| ENST00000466288.1 | hg19 | chr2 | 136,872,207 | 136,875,307 | 3,101 |
| Key | Value |
|---|---|
| strand | - |
| start | 136,871,918 |
| Gene Symbol | CXCR4 |
| Entrez GeneId | 7,852 |
| Chr Band | 2q21 |
| end | 136,875,724 |
| chr | chr2 |
| Name | C-X-C motif chemokine receptor 4 |
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