chr3:39265765:C>T Detail (hg38) (CX3CR1)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr3:39,307,256-39,307,256 View the variant detail on this assembly version. |
| hg38 | chr3:39,265,765-39,265,765 |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_001171174.1:c.841G>A | NP_001164645.1:p.Val281Ile |
| NM_001337.3:c.745G>A | NP_001328.1:p.Val249Ile | |
| NM_001171171.1:c.745G>A | NP_001164642.1:p.Val249Ile |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:0.054 |
| ToMMo:0.046 | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:0.024 |
Prediction
ClinVar
| Clinical Significance | no classification for the single variant |
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
Pathogenic
|
2014-09-05 | no assertion criteria provided | Human immunodeficiency virus type 1, rapid progression to AIDS |
germline
|
Detail |
protective
|
2015-05-18 | no assertion criteria provided | Coronary artery disease, resistance to |
germline
|
Detail |
risk factor
|
2013-12-01 | no assertion criteria provided | age related macular degeneration 12 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| 0.065 | HIV Infections | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... | BeFree | 12879309 | Detail |
| 0.160 | HIV Infections | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... | BeFree | 12879309 | Detail |
| 0.048 | HIV Infections | We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, ... | BeFree | 12879309 | Detail |
| 0.560 | Crohn Disease | Our aim was to evaluate the frequency of CX3CR1 V249I and T280M polymorphisms an... | BeFree | 18617779 | Detail |
| 0.019 | coronary artery disease | Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 ge... | BeFree | 22731642 | Detail |
| <0.001 | Coronary heart disease, susceptibility to, 5 | Role of the fractalkine receptor CX3CR1 polymorphisms V249I and T280M as risk fa... | BeFree | 18609106 | Detail |
| 0.122 | Coronary heart disease | Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 ge... | BeFree | 22731642 | Detail |
| <0.001 | Cardiovascular Abnormalities | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| 0.012 | age related macular degeneration | Associations Between the T280M and V249I SNPs in CX3CR1 and the Risk of Age-Rela... | BeFree | 26305531 | Detail |
| <0.001 | Cardiovascular Abnormalities | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| 0.160 | HIV Infections | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been ... | BeFree | 17884099 | Detail |
| 0.004 | multiple sclerosis | The association of V249I and T280M fractalkine receptor haplotypes with disease ... | BeFree | 22261545 | Detail |
| <0.001 | Endothelial dysfunction | The aim of this study was to search for an association between V249I and T280M p... | BeFree | 19587779 | Detail |
| 0.200 | MACULAR DEGENERATION, AGE-RELATED, 12 | NA | CLINVAR | Detail | |
| 0.088 | coronary artery disease | We investigated the effect of 5 common variations of chemokine and chemokine rec... | BeFree | 16480760 | Detail |
| 0.001 | HIV Infections | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been ... | BeFree | 17884099 | Detail |
| 0.008 | Acute coronary syndrome | Opposite effects of CX3CR1 receptor polymorphisms V249I and T280M on the develop... | BeFree | 15886814 | Detail |
| 0.005 | arteriosclerosis | The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphism... | BeFree | 15644279 | Detail |
| 0.005 | acquired immunodeficiency syndrome | Two chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms, V249I and T280M, ... | BeFree | 15787642 | Detail |
| 0.005 | arteriosclerosis | CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been... | BeFree | 16675737 | Detail |
| 0.003 | coronary artery disease | The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding sin... | BeFree | 20523302 | Detail |
| 0.007 | Coronary Arteriosclerosis | Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 ge... | BeFree | 22731642 | Detail |
| 0.002 | Chronic kidney disease stage 5 | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| <0.001 | arteriosclerosis | CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been... | BeFree | 16675737 | Detail |
| 0.003 | Kidney Failure, Chronic | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| 0.017 | atherosclerosis | CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been... | BeFree | 16675737 | Detail |
| 0.019 | coronary artery disease | Two CX3CR1 mutations, V249I and T280M, reportedly decrease coronary artery disea... | BeFree | 18609106 | Detail |
| <0.001 | asthma | The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding sin... | BeFree | 20523302 | Detail |
| <0.001 | HIV Infections | To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been ... | BeFree | 17884099 | Detail |
| 0.045 | acquired immunodeficiency syndrome | Two chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms, V249I and T280M, ... | BeFree | 15787642 | Detail |
| 0.001 | Chronic kidney disease stage 5 | We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene poly... | BeFree | 21132346 | Detail |
| <0.001 | Chronic kidney disease stage 5 | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| 0.008 | asthma | The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding sin... | BeFree | 20523302 | Detail |
| <0.001 | Chronic kidney disease stage 5 | We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene poly... | BeFree | 21132346 | Detail |
| 0.127 | coronary artery disease | We investigated the effect of 5 common variations of chemokine and chemokine rec... | BeFree | 16480760 | Detail |
| 0.017 | atherosclerosis | The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphism... | BeFree | 15644279 | Detail |
| 0.019 | coronary artery disease | The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding sin... | BeFree | 20523302 | Detail |
| 0.004 | atherosclerosis | CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been... | BeFree | 16675737 | Detail |
| 0.153 | Kidney Failure, Chronic | The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 poly... | BeFree | 12846758 | Detail |
| 0.006 | Crohn Disease | The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disea... | BeFree | 18617779 | Detail |
| 0.019 | coronary artery disease | The 249I allele carriers of the CX3CR1 V249I polymorphism decreased the risk of ... | BeFree | 25221380 | Detail |
| <0.001 | Carcinogenesis | In summary, these results suggest that the patho-physiological role of individua... | BeFree | 15809764 | Detail |
| <0.001 | Stenosis of intestine | In multivariate analysis, 3020InsC NOD2/CARD15 mutations and the V249I CX3CR1 po... | BeFree | 18617779 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met) AND Human immunodeficiency virus type 1, rapid prog... | ClinVar | Detail |
| CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met) AND Coronary artery disease, resistance to | ClinVar | Detail |
| CX3CR1:c.[841G>A;935C>T] (p.Val294Ile;Thr280Met) AND Age related macular degeneration 12 | ClinVar | Detail |
| We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... | DisGeNET | Detail |
| We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... | DisGeNET | Detail |
| We have studied in non-human primates (chimpanzee, gorilla, gibbon, orang-utan, crab-eating and rhes... | DisGeNET | Detail |
| Our aim was to evaluate the frequency of CX3CR1 V249I and T280M polymorphisms and NOD2/CARD15 mutati... | DisGeNET | Detail |
| Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset ... | DisGeNET | Detail |
| Role of the fractalkine receptor CX3CR1 polymorphisms V249I and T280M as risk factors for early-onse... | DisGeNET | Detail |
| Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset ... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| Associations Between the T280M and V249I SNPs in CX3CR1 and the Risk of Age-Related Macular Degenera... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapi... | DisGeNET | Detail |
| The association of V249I and T280M fractalkine receptor haplotypes with disease course of multiple s... | DisGeNET | Detail |
| The aim of this study was to search for an association between V249I and T280M polymorphisms of CX3C... | DisGeNET | Detail |
| NA | DisGeNET | Detail |
| We investigated the effect of 5 common variations of chemokine and chemokine receptor genes (SDF1-3'... | DisGeNET | Detail |
| To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapi... | DisGeNET | Detail |
| Opposite effects of CX3CR1 receptor polymorphisms V249I and T280M on the development of acute corona... | DisGeNET | Detail |
| The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphisms, V249I and T280M h... | DisGeNET | Detail |
| Two chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms, V249I and T280M, and 10 CC chemokine ... | DisGeNET | Detail |
| CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with int... | DisGeNET | Detail |
| The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polym... | DisGeNET | Detail |
| Association of V249I and T280M polymorphisms in the chemokine receptor CX3CR1 gene with early onset ... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with int... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with int... | DisGeNET | Detail |
| Two CX3CR1 mutations, V249I and T280M, reportedly decrease coronary artery disease (CAD) risk indepe... | DisGeNET | Detail |
| The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polym... | DisGeNET | Detail |
| To investigate whether fractalkine receptor CX3CR1 polymorphisms that have been associated with rapi... | DisGeNET | Detail |
| Two chemokine (C-X3-C) receptor 1 (CX3CR1) gene polymorphisms, V249I and T280M, and 10 CC chemokine ... | DisGeNET | Detail |
| We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene polymorphisms as suscept... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polym... | DisGeNET | Detail |
| We explored the role of CCR5-Δ32, CCR5-G59029A, CX3CR1 V249I and T280M gene polymorphisms as suscept... | DisGeNET | Detail |
| We investigated the effect of 5 common variations of chemokine and chemokine receptor genes (SDF1-3'... | DisGeNET | Detail |
| The contribution to atherosclerosis of two CX3CR1 single nucleotide polymorphisms, V249I and T280M h... | DisGeNET | Detail |
| The CX3CR1 gene encodes the fractalkine (CX3CL1) receptor and has two coding single-nucleotide polym... | DisGeNET | Detail |
| CX3CR1 has 2 common coding polymorphisms, namely V249I and T280M, that have been associated with int... | DisGeNET | Detail |
| The -174G/C polymorphism of the IL-6 gene and the chemokine receptor CX3CR1 polymorphisms 249V/I and... | DisGeNET | Detail |
| The V249I polymorphism of the CX3CR1 gene is associated with fibrostenotic disease behavior in patie... | DisGeNET | Detail |
| The 249I allele carriers of the CX3CR1 V249I polymorphism decreased the risk of AS and CAD in the he... | DisGeNET | Detail |
| In summary, these results suggest that the patho-physiological role of individual chemokines in carc... | DisGeNET | Detail |
| In multivariate analysis, 3020InsC NOD2/CARD15 mutations and the V249I CX3CR1 polymorphism were inde... | DisGeNET | Detail |
Overlapped Transcript Coordinates
| Gene | Transcript ID | Exon Number | Chromosome | Start | Stop | Type | Amino Mutation | Transcript Position | Links |
|---|
Overlapped Transcript
| Gene | Transcript ID | Chromosome | Start | Stop | Links |
|---|
- Gene
- -
- dbSNP
- rs3732378 dbSNP
- Genome
- hg38
- Position
- chr3:39,265,765-39,265,765
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- Filtering Status (HGVD)
- PASS
- # of samples (HGVD)
- 1210
- Mean of sample read depth (HGVD)
- 202.23
- Standard deviation of sample read depth (HGVD)
- 88.36
- Number of reference allele (HGVD)
- 2289
- Number of alternative allele (HGVD)
- 131
- Allele Frequency (HGVD)
- 0.05413223140495868
- Gene Symbol (HGVD)
- CX3CR1
- ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- PASS
- Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- rs3732379
- Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 0.0459
- Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 770
- Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
- 16760
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 207
- East Asian Heterozygous Counts (ExAC)
- 199
- East Asian Homozygous Counts (ExAC)
- 4
- East Asian Allele Frequency (ExAC)
- 0.023997217713888245
- Chromosome Counts in All Race (ExAC)
- 120764
- Allele Counts in All Race (ExAC)
- 26680
- Heterozygous Counts in All Race (ExAC)
- 20134
- Homozygous Counts in All Race (ExAC)
- 3273
- Allele Frequency in All Race (ExAC)
- 0.22092676625484417
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