chr4:186083063:C>A Detail (hg38) (TLR3)

Information

Genome

Assembly Position
hg19 chr4:187,004,217-187,004,217 View the variant detail on this assembly version.
hg38 chr4:186,083,063-186,083,063

HGVS

Type Transcript Protein
RefSeq NM_003265.2:c.1377C>A NP_003256.1:p.Phe459Leu
Ensemble ENST00000296795.8:c.1377C>A ENST00000296795.8:p.Phe459Leu
ENST00000504367.1:c.546C>A ENST00000504367.1:p.Phe182Leu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
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 tgv19855883 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.002 hepatitis B To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like recep... BeFree 25388852 Detail
0.002 hepatitis B To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like recep... BeFree 25388852 Detail
0.005 liver carcinoma The results indicated that genetic variant in TLR3 gene rs3775290 polymorphisms ... BeFree 26024592 Detail
0.007 Malignant neoplasm of urinary bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
<0.001 liver cirrhosis Association analysis showed that the TT genotype of TLR3 rs3775290 was associate... BeFree 26024592 Detail
<0.001 Carcinoma of bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
0.002 stomach carcinoma The TLR3 gene (c. 1377C/T) polymorphisms and the del allele of the TLR2 gene ( 1... BeFree 25843196 Detail
<0.001 Malignant neoplasm of urinary bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
0.002 Carcinoma of bladder We examined the association between candidate disease-susceptibility polymorphis... BeFree 23142523 Detail
<0.001 stomach carcinoma The TLR3 gene (c. 1377C/T) polymorphisms and the del allele of the TLR2 gene ( 1... BeFree 25843196 Detail
Annotation

Annotations

DescrptionSourceLinks
To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like receptors (TLRs) 3 and 9 ... DisGeNET Detail
To investigate whether single nucleotide polymorphisms (SNPs) in Toll-like receptors (TLRs) 3 and 9 ... DisGeNET Detail
The results indicated that genetic variant in TLR3 gene rs3775290 polymorphisms may be a protective ... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
Association analysis showed that the TT genotype of TLR3 rs3775290 was associated with a decreased r... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
The TLR3 gene (c. 1377C/T) polymorphisms and the del allele of the TLR2 gene ( 196 to 174) were both... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
We examined the association between candidate disease-susceptibility polymorphisms in the single nuc... DisGeNET Detail
The TLR3 gene (c. 1377C/T) polymorphisms and the del allele of the TLR2 gene ( 196 to 174) were both... 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
rs3775290 dbSNP
Genome
hg38
Position
chr4:186,083,063-186,083,063
Variant Type
snv
Reference Allele
C
Alternative Allele
A
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