chr4:154624656:T>C Detail (hg19) (TLR2)

Information

Genome

Assembly Position
hg19 chr4:154,624,656-154,624,656
hg38 chr4:153,703,504-153,703,504 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001318787.1:c.597T>C NP_001305716.1:p.Asn199=
NM_001318789.1:c.597T>C NP_001305718.1:p.Asn199=
NM_001318790.1:c.597T>C NP_001305719.1:p.Asn199=
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.321
ToMMo:0.313
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.294

Prediction

ClinVar

Clinical Significance Benign
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 tgv19142723 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Benign 2019-10-16 criteria provided, single submitter TLR2-related disorder germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.015 Tuberculosis, Pulmonary Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of th... BeFree 23830055 Detail
0.016 HIV Infections TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin... BeFree 24325963 Detail
0.010 HIV Infections TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time sin... BeFree 24325963 Detail
0.003 Sepsis Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... BeFree 20463618 Detail
0.001 Septicemia Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... BeFree 20463618 Detail
0.005 Septicemia Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... BeFree 20463618 Detail
0.100 Sepsis Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G... BeFree 20463618 Detail
<0.001 Tuberculosis, Miliary These results demonstrate a strong association of TLR2 SNP T597C with the develo... BeFree 17554342 Detail
0.051 tuberculosis These results demonstrate a strong association of TLR2 SNP T597C with the develo... BeFree 17554342 Detail
<0.001 Sexual abuse The negative effects of childhood sexual abuse on age at onset of BD may be ampl... BeFree 25790282 Detail
<0.001 acute pyelonephritis Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs38041... BeFree 23484049 Detail
<0.001 Vesico-Ureteral Reflux Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs38041... BeFree 23484049 Detail
0.051 tuberculosis We also found that individuals with the C allele of TLR-2 T597C allele were more... BeFree 18369480 Detail
0.009 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.033 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.005 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.010 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.003 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.098 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.012 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.183 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.422 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.003 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.131 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.004 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.034 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.144 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.008 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.130 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.187 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.012 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.004 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.131 ulcerative colitis Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
<0.001 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
0.009 Crohn Disease Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory resp... BeFree 24776844 Detail
Annotation

Annotations

DescrptionSourceLinks
NM_001318789.2(TLR2):c.597T>C (p.Asn199=) AND TLR2-related disorder ClinVar Detail
Our data suggest that 597T/C polymorphism, but not Arg677Trp polymorphism, of the TLR-2 gene is a ri... DisGeNET Detail
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition... DisGeNET Detail
TLR7 rs179012 and TLR2 597C/T reduced set-point; the latter modified by time since HIV-1 acquisition... DisGeNET Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... DisGeNET Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... DisGeNET Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... DisGeNET Detail
Polymorphisms in TLR2 (rs3804099), TLR5 (rs5744105), IL10 (rs1800896), and PLA2G2A (rs1891320) genes... DisGeNET Detail
These results demonstrate a strong association of TLR2 SNP T597C with the development of TBM and mil... DisGeNET Detail
These results demonstrate a strong association of TLR2 SNP T597C with the development of TBM and mil... DisGeNET Detail
The negative effects of childhood sexual abuse on age at onset of BD may be amplified in TLR2 rs3804... DisGeNET Detail
Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significa... DisGeNET Detail
Further genotype pattern frequency analysis in TLR-2 SNPs (rs3804099 and rs3804100) showed significa... DisGeNET Detail
We also found that individuals with the C allele of TLR-2 T597C allele were more likely to have tube... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... DisGeNET Detail
Nineteen functional polymorphisms that alter the NFκB-mediated inflammatory response (TLR2 (rs380409... 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
-
Genome
hg19
Position
chr4:154,624,656-154,624,656
Variant Type
snv
Reference Allele
T
Alternative Allele
C
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
100.06
Standard deviation of sample read depth (HGVD)
44.69
Number of reference allele (HGVD)
1643
Number of alternative allele (HGVD)
777
Allele Frequency (HGVD)
0.3210743801652893
Gene Symbol (HGVD)
TLR2
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))
rs3804099
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.3131
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
5248
Total number of alleles in called genotypes (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
16760
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
2542
East Asian Heterozygous Counts (ExAC)
1790
East Asian Homozygous Counts (ExAC)
376
East Asian Allele Frequency (ExAC)
0.29414487387178895
Chromosome Counts in All Race (ExAC)
121290
Allele Counts in All Race (ExAC)
49886
Heterozygous Counts in All Race (ExAC)
28338
Homozygous Counts in All Race (ExAC)
10774
Allele Frequency in All Race (ExAC)
0.4112952428064968
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