chr4:153704936:C>T Detail (hg38) (TLR2)

Information

Genome

Assembly Position
hg19 chr4:154,626,088-154,626,088 View the variant detail on this assembly version.
hg38 chr4:153,704,936-153,704,936

HGVS

Type Transcript Protein
RefSeq NM_001318787.1:c.2029C>T NP_001305716.1:p.Arg677Trp
NM_001318789.1:c.2029C>T NP_001305718.1:p.Arg677Trp
NM_001318790.1:c.2029C>T NP_001305719.1:p.Arg677Trp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:<0.001
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance risk factor
Review star
Show details
Links
Type Database ID Link
Gene MIM 603028 OMIM
HGNC 11848 HGNC
Ensembl ENSG00000137462 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19142983 TogoVar
COSMIC COSM1539674 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
risk factor 2009-04-01 no assertion criteria provided Leprosy, susceptibility to, 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.017 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
0.100 Sepsis Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 respo... BeFree 18249133 Detail
0.015 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.051 tuberculosis Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to... BeFree 15138193 Detail
<0.001 rheumatic heart disease The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and... BeFree 17096074 Detail
0.010 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
<0.001 Coronary Arteriosclerosis In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.132 leprosy TLR2 Arg677Trp polymorphism in leprosy: revisited. BeFree 15726416 Detail
0.007 Leprosy, Lepromatous Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp po... BeFree 15726416 Detail
0.134 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.007 Leprosy, Lepromatous Thus, these results suggest that the TLR2 signal pathway plays a critical role i... BeFree 15270740 Detail
<0.001 Mycobacterium Infections Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
<0.001 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.002 Mycobacterium Infections Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
0.006 Cytomegalovirus Infections Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like ... BeFree 24813591 Detail
0.001 Septicaemia due to gram-negative organism, unspecified Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
0.013 Chronic Obstructive Airway Disease Toll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstr... BeFree 19381722 Detail
0.015 Tuberculosis, Pulmonary Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of th... BeFree 23830055 Detail
0.002 Septicaemia due to gram-negative organism, unspecified Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (... BeFree 17855803 Detail
<0.001 acute myocardial infarction TLR2 and age-related diseases: potential effects of Arg753Gln and Arg677Trp poly... BeFree 18442320 Detail
0.001 Leprosy, Lepromatous This study investigated the profiles of cytokines, such as interferon (IFN)-gamm... BeFree 15270740 Detail
0.008 Coronary heart disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.051 tuberculosis Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and... BeFree 20002809 Detail
<0.001 coronary artery disease In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.120 Leprosy, susceptibility to, 3 NA CLINVAR Detail
0.005 Septicemia Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 respo... BeFree 18249133 Detail
0.003 Cytomegalovirus Infections Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like ... BeFree 24813591 Detail
<0.001 Diabetes Mellitus, Non-Insulin-Dependent In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gl... BeFree 23091345 Detail
0.003 obesity In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF recept... BeFree 20357716 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001318789.2(TLR2):c.2029C>T (p.Arg677Trp) AND Leprosy, susceptibility to, 3 ClinVar Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may co... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Toll-like receptor 2 Arg677Trp polymorphism is associated with susceptibility to tuberculosis in Tun... DisGeNET Detail
The lack of genetic association of the Toll-like receptor 2 (TLR2) Arg753Gln and Arg677Trp polymorph... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
TLR2 Arg677Trp polymorphism in leprosy: revisited. DisGeNET Detail
Genotyping results after direct PCR sequencing showed that the TLR2 Arg677Trp polymorphism associate... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Thus, these results suggest that the TLR2 signal pathway plays a critical role in the alteration of ... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like receptor 4 Asp299Gly... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
Toll-like receptor 2 gene polymorphisms Arg677Trp and Arg753Gln in chronic obstructive pulmonary dis... DisGeNET Detail
Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of the TLR-2 gene is a ri... DisGeNET Detail
Nonconservative single nucleotide polymorphisms in the coding regions of TLR-2 (Arg677Trp and Arg753... DisGeNET Detail
TLR2 and age-related diseases: potential effects of Arg753Gln and Arg677Trp polymorphisms in acute m... DisGeNET Detail
This study investigated the profiles of cytokines, such as interferon (IFN)-gamma, interleukin (IL)-... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
Polymorphisms of the toll-like receptor 2 (TLR2) gene (Arg677Trp, Arg753Gln) and the TLR4 gene (Asp2... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
NA DisGeNET Detail
Single nucleotide polymorphisms (SNPs) Arg753Gln and Arg677Trp affect TLR2 responsiveness and may co... DisGeNET Detail
Relationship between toll-like receptor 2 Arg677Trp and Arg753Gln and toll-like receptor 4 Asp299Gly... DisGeNET Detail
In conclusion, our data suggests that TLR2 Arg677Trp or Arg753Gln, TLR4 Asp299Gly or Thr399Ile and T... DisGeNET Detail
In our study, TNF-alpha, soluble TNF receptor 1 (sTNFR1), and soluble TNF receptor 2 (sTNFR2) levels... 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
rs121917864 dbSNP
Genome
hg38
Position
chr4:153,704,936-153,704,936
Variant Type
snv
Reference Allele
C
Alternative Allele
T
ToMMo VCF FILTER column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
VQSRTrancheSNP99.80to99.90
Total VCF ID column value (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
rs121917864
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.0001
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
2
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8654
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1555350127108852E-4
Chromosome Counts in All Race (ExAC)
121020
Allele Counts in All Race (ExAC)
9
Heterozygous Counts in All Race (ExAC)
9
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
7.436787307882995E-5
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