chr4:153704799:C>A Detail (hg38) (TLR2)

Go to:

Summary
Information
Links
Disease area statistics
MGeND
ClinVar
CIViC
DisGeNET
Annotation
Genome browser

Information

Genome

Assembly	Position
hg19	chr4:154,625,951-154,625,951 View the variant detail on this assembly version.
hg38	chr4:153,704,799-153,704,799

HGVS

TLR2

Type	Transcript	Protein
RefSeq	NM_001318787.1:c.1892C>A	NP_001305716.1:p.Pro631His
	NM_001318789.1:c.1892C>A	NP_001305718.1:p.Pro631His
	NM_001318790.1:c.1892C>A	NP_001305719.1:p.Pro631His
	NM_001318791.1:c.1892C>A	NP_001305720.1:p.Pro631His
	NM_001318793.1:c.1892C>A	NP_001305722.1:p.Pro631His
	NM_001318795.1:c.1892C>A	NP_001305724.1:p.Pro631His
	NM_001318796.1:c.1892C>A	NP_001305725.1:p.Pro631His
	NM_003264.4:c.1892C>A	NP_003255.2:p.Pro631His
Ensemble	ENST00000260010.7:c.1892C>A	ENST00000260010.7:p.Pro631His
	ENST00000642580.1:c.1892C>A	ENST00000642580.1:p.Pro631His
	ENST00000642700.2:c.1892C>A	ENST00000642700.2:p.Pro631His
	ENST00000643501.2:c.1892C>A	ENST00000643501.2:p.Pro631His
	ENST00000646219.2:c.1892C>A	ENST00000646219.2:p.Pro631His
	ENST00000646900.2:c.1892C>A	ENST00000646900.2:p.Pro631His
	ENST00000714431.1:c.1892C>A	ENST00000714431.1:p.Pro631His
	ENST00000714432.1:c.1892C>A	ENST00000714432.1:p.Pro631His
	ENST00000714433.1:c.1892C>A	ENST00000714433.1:p.Pro631His
	ENST00000714434.1:c.1892C>A	ENST00000714434.1:p.Pro631His
	ENST00000714435.1:c.1892C>A	ENST00000714435.1:p.Pro631His
	ENST00000714436.1:c.598-52C>A

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
Review star	[No Data.]
Show details

Links

TLR2

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	tgv330747262	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
0.016	HIV Infections	: To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (18...	BeFree	18769358	Detail
<0.001	Pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia	Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated ...	BeFree	21905008	Detail
0.003	meningococcal meningitis	Our data, in combination with a report by others show that the TLR2-P631H allele...	BeFree	20500688	Detail
<0.001	Pulmonary arterial hypertension	Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated ...	BeFree	21905008	Detail
0.051	tuberculosis	Our data, in combination with a report by others show that the TLR2-P631H allele...	BeFree	20500688	Detail
<0.001	Idiopathic pulmonary hypertension	Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated ...	BeFree	21905008	Detail
0.138	rheumatoid arthritis	[Several SNPs mapping to the TLR and NFkappaB signalling systems demonstrated as...	GAD	20448286	Detail
<0.001	meningitis	Our data, in combination with a report by others show that the TLR2-P631H allele...	BeFree	20500688	Detail

Annotation

Annotations

Descrption	Source	Links
: To analyze the influence of single-nucleotide polymorphisms (SNPs) in TLR2 (1892A/C and 2258G/A), ...	DisGeNET	Detail
Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomera...	DisGeNET	Detail
Our data, in combination with a report by others show that the TLR2-P631H allele could be associated...	DisGeNET	Detail
Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomera...	DisGeNET	Detail
Our data, in combination with a report by others show that the TLR2-P631H allele could be associated...	DisGeNET	Detail
Among patients with SSc, the rare TLR2 Pro631His variant is robustly associated with antitopoisomera...	DisGeNET	Detail
[Several SNPs mapping to the TLR and NFkappaB signalling systems demonstrated association with anti-...	DisGeNET	Detail
Our data, in combination with a report by others show that the TLR2-P631H allele could be associated...	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: hg38
Position: chr4:153,704,799-153,704,799
Variant Type: snv
Reference Allele: C
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8568
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.1671335200746966E-4
Chromosome Counts in All Race (ExAC): 120822
Allele Counts in All Race (ExAC): 3325
Heterozygous Counts in All Race (ExAC): 3199
Homozygous Counts in All Race (ExAC): 63
Allele Frequency in All Race (ExAC): 0.02751982254887355

Genome browser