chr4:187004074:C>G Detail (hg19) (TLR3)
Information
Genome
| Assembly | Position |
|---|---|
| hg19 | chr4:187,004,074-187,004,074 |
| hg38 | chr4:186,082,920-186,082,920 View the variant detail on this assembly version. |
HGVS
| Type | Transcript | Protein |
|---|---|---|
| RefSeq | NM_003265.2:c.1234C>G | NP_003256.1:p.Leu412Val |
| Ensemble | ENST00000296795.8:c.1234C>G | ENST00000296795.8:p.Leu412Val |
| ENST00000504367.1:c.403C>G | ENST00000504367.1:p.Leu135Val |
Summary
MGeND
| Clinical significance | |
| Variant entry | |
| GWAS entry | |
| Disease area statistics | Show details |
Frequency
| JP | HGVD:[No Data.] |
| ToMMo:[No Data.] | |
| NCBN:[No Data.] | |
| NCBN(Hondo):[No Data.] | |
| NCBN(Ryukyu):[No Data.] | |
| East asia | ExAC:<0.001 |
Prediction
ClinVar
| Clinical Significance |
Uncertain significance
|
| Review star |  |
| Show details | |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
| Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
|---|---|---|---|---|---|
|
Uncertain significance
|
2023-08-24 | criteria provided, single submitter | Herpes simplex encephalitis, susceptibility to, 1 |
germline
|
Detail |
CIViC
[No Data.]
DisGeNET
| Score | Disease name | Description | Source | Pubmed | Links |
|---|---|---|---|---|---|
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| <0.001 | Non-small cell lung carcinoma | Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in dif... | BeFree | 21412764 | Detail |
| 0.003 | age related macular degeneration | Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD ... | BeFree | 18385087 | Detail |
| 0.012 | age related macular degeneration | Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD ... | BeFree | 18385087 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... | BeFree | 25326706 | Detail |
| <0.001 | Wheezing | IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a si... | BeFree | 25326706 | Detail |
| <0.001 | colorectal carcinoma | More importantly, among 582 followed up patients the SNP rs3775291 in the toll-l... | BeFree | 21239167 | Detail |
| <0.001 | Dengue Fever | Results revealed significantly lower frequency of TLR3 rs3775291 T allele [DHF v... | BeFree | 25446400 | Detail |
| 0.004 | Lichen Planus, Oral | No association with OLP risk was observed for the polymorphisms studied in TLR2,... | BeFree | 24028589 | Detail |
| 0.136 | age related macular degeneration | Even with previously verified samples sets and adequate study powers, the result... | BeFree | 19628747 | Detail |
| 0.004 | tick-borne encephalitis | Association of single nucleotide polymorphism rs3775291 in the coding region of ... | BeFree | 23721942 | Detail |
| <0.001 | colorectal cancer | More importantly, among 582 followed up patients the SNP rs3775291 in the toll-l... | BeFree | 21239167 | Detail |
| 0.012 | age related macular degeneration | Even with previously verified samples sets and adequate study powers, the result... | BeFree | 19628747 | Detail |
| 0.012 | age related macular degeneration | A single-nucleotide polymorphism (SNP; rs3775291) in the Toll-like receptor 3 (T... | BeFree | 21079408 | Detail |
| 0.003 | myocarditis | A polymorphism in TLR3, rs3775291 (Leu412Phe), has been associated with the incr... | BeFree | 23962581 | Detail |
| 0.080 | pancreatitis | Regarding severity, CC genotype patients in TLR3 rs3775291 had an increased risk... | BeFree | 25423559 | Detail |
| 0.004 | tick-borne encephalitis | A polymorphism in TLR3, rs3775291 (Leu412Phe), has been associated with the incr... | BeFree | 23962581 | Detail |
| 0.012 | age related macular degeneration | The genetic association between a variant in the Toll-like receptor 3 (TLR3) gen... | BeFree | 21712495 | Detail |
| 0.011 | Virus Diseases | Genetic association studies have provided evidence concerning the role of a poly... | BeFree | 22174453 | Detail |
| 0.003 | tick-borne encephalitis | A possible association between predisposition to TBE in a Russian population and... | BeFree | 23721942 | Detail |
| 0.005 | HIV Infections | Association between TLR3 rs3775291 and resistance to HIV among highly exposed Ca... | BeFree | 23962581 | Detail |
| 0.015 | melanoma | We investigated the association of polymorphisms in three pattern recognition re... | BeFree | 24621100 | Detail |
| 0.002 | melanoma | We investigated the association of polymorphisms in three pattern recognition re... | BeFree | 24621100 | Detail |
| 0.009 | melanoma | We investigated the association of polymorphisms in three pattern recognition re... | BeFree | 24621100 | Detail |
Annotation
Annotations
| Descrption | Source | Links |
|---|---|---|
| NM_003265.3(TLR3):c.1234C>G (p.Leu412Val) AND Herpes simplex encephalitis, susceptibility to, 1 | ClinVar | Detail |
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| Among the 178 SNPs, 24 were significantly associated with NSCLC prognosis in different genetic model... | DisGeNET | Detail |
| Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.... | DisGeNET | Detail |
| Coding SNPs in TLR3 (rs3775291) and TLR7 (rs179008) showed association with AMD in one group (P = 0.... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... | DisGeNET | Detail |
| IL8-rs4073AT, VEGFA-rs2146323AA and NFKBIA-rs2233419AG were associated with a significantly increase... | DisGeNET | Detail |
| More importantly, among 582 followed up patients the SNP rs3775291 in the toll-like receptor 3 (TLR-... | DisGeNET | Detail |
| Results revealed significantly lower frequency of TLR3 rs3775291 T allele [DHF vs. DF P = 0.015 odds... | DisGeNET | Detail |
| No association with OLP risk was observed for the polymorphisms studied in TLR2, TLR4 and CD14 genes... | DisGeNET | Detail |
| Even with previously verified samples sets and adequate study powers, the results did not confirm th... | DisGeNET | Detail |
| Association of single nucleotide polymorphism rs3775291 in the coding region of the TLR3 gene with p... | DisGeNET | Detail |
| More importantly, among 582 followed up patients the SNP rs3775291 in the toll-like receptor 3 (TLR-... | DisGeNET | Detail |
| Even with previously verified samples sets and adequate study powers, the results did not confirm th... | DisGeNET | Detail |
| A single-nucleotide polymorphism (SNP; rs3775291) in the Toll-like receptor 3 (TLR3) gene has recent... | DisGeNET | Detail |
| A polymorphism in TLR3, rs3775291 (Leu412Phe), has been associated with the increased susceptibility... | DisGeNET | Detail |
| Regarding severity, CC genotype patients in TLR3 rs3775291 had an increased risk for severe pancreat... | DisGeNET | Detail |
| A polymorphism in TLR3, rs3775291 (Leu412Phe), has been associated with the increased susceptibility... | DisGeNET | Detail |
| The genetic association between a variant in the Toll-like receptor 3 (TLR3) gene (C1234T in mRNA, L... | DisGeNET | Detail |
| Genetic association studies have provided evidence concerning the role of a polymorphism in TLR3 (rs... | DisGeNET | Detail |
| A possible association between predisposition to TBE in a Russian population and two polymorphisms, ... | DisGeNET | Detail |
| Association between TLR3 rs3775291 and resistance to HIV among highly exposed Caucasian intravenous ... | DisGeNET | Detail |
| We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-t... | DisGeNET | Detail |
| We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-t... | DisGeNET | Detail |
| We investigated the association of polymorphisms in three pattern recognition receptor (PRR) genes-t... | 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
- rs3775291 dbSNP
- Genome
- hg19
- Position
- chr4:187,004,074-187,004,074
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
- East Asian Chromosome Counts (ExAC)
- 8626
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 120980
- Allele Counts in All Race (ExAC)
- 15
- Heterozygous Counts in All Race (ExAC)
- 10
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.2398743593982476E-4
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