chr4:187004074:C>T 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>T NP_003256.1:p.Leu412Phe
Ensemble ENST00000296795.8:c.1234C>T ENST00000296795.8:p.Leu412Phe
ENST00000504367.1:c.403C>T ENST00000504367.1:p.Leu135Phe
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:0.264
ToMMo:0.259
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:0.337

Prediction

ClinVar

Clinical Significance Benign Likely benign
Review star
Show details
Links
Type Database ID Link
Gene MIM 603029 OMIM
HGNC 11849 HGNC
Ensembl ENSG00000164342 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv19855861 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
protective 2018-08-08 no assertion criteria provided Susceptibility to HIV infection germline Detail
Benign 2016-03-28 criteria provided, single submitter not specified germline Detail
Likely benign 2016-11-25 criteria provided, single submitter Immunodeficiency 83, susceptibility to viral infections germline Detail
Benign 2024-01-31 criteria provided, single submitter Herpes simplex encephalitis, susceptibility to, 1 germline Detail
Benign 2019-10-29 criteria provided, single submitter not provided germline Detail
Benign 2021-08-13 criteria provided, single submitter Immunodeficiency 83, susceptibility to viral infections,Susceptibility to HIV infection unknown Detail
Benign 2021-08-13 criteria provided, single submitter Immunodeficiency 83, susceptibility to viral infections,Susceptibility to HIV infection unknown Detail
Benign 2024-01-28 criteria provided, single submitter TLR3-related disorder 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

DescrptionSourceLinks
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND Susceptibility to HIV infection ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND not specified ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND Immunodeficiency 83, susceptibility to viral infection... ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND Herpes simplex encephalitis, susceptibility to, 1 ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND not provided ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND multiple conditions ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND multiple conditions ClinVar Detail
NM_003265.3(TLR3):c.1234C>T (p.Leu412Phe) AND TLR3-related disorder 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
T
Filtering Status (HGVD)
PASS
# of samples (HGVD)
1210
Mean of sample read depth (HGVD)
136.37
Standard deviation of sample read depth (HGVD)
64.13
Number of reference allele (HGVD)
1780
Number of alternative allele (HGVD)
640
Allele Frequency (HGVD)
0.2644628099173554
Gene Symbol (HGVD)
TLR3
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))
rs3775291
Allele frequency, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
0.2595
Allele count in genotypes, for each ALT allele (ToMMo 8.3KJPN Allele Frequency Panel(v20200831))
4350
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)
2910
East Asian Heterozygous Counts (ExAC)
1942
East Asian Homozygous Counts (ExAC)
484
East Asian Allele Frequency (ExAC)
0.337352191050313
Chromosome Counts in All Race (ExAC)
120980
Allele Counts in All Race (ExAC)
32810
Heterozygous Counts in All Race (ExAC)
23179
Homozygous Counts in All Race (ExAC)
4813
Allele Frequency in All Race (ExAC)
0.27120185154571
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