chr9:117712970:G>A Detail (hg38) (TLR4)

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

Genome

Assembly	Position
hg19	chr9:120,475,248-120,475,248 View the variant detail on this assembly version.
hg38	chr9:117,712,970-117,712,970

HGVS

TLR4

Type	Transcript	Protein
RefSeq	NM_138554.4:c.842G>A	NP_612564.1:p.Cys281Tyr
	NM_003266.3:c.722G>A	NP_003257.1:p.Cys241Tyr
Ensemble	ENST00000355622.8:c.842G>A	ENST00000355622.8:p.Cys281Tyr
	ENST00000394487.5:c.722G>A	ENST00000394487.5:p.Cys241Tyr
	ENST00000472304.2:c.*576G>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	not provided
Review star
Show details

Links

TLR4

Type	Database	ID	Link
Gene	MIM	603030	OMIM
	HGNC	11850	HGNC
	Ensembl	ENSG00000136869	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv364420944	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
not provided		no assertion provided	not provided	not provided	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.170	Iron Overload	Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9,...	BeFree	19809335	Detail

Annotation

Annotations

Descrption	Source	Links
NM_138554.5(TLR4):c.842G>A (p.Cys281Tyr) AND not provided	ClinVar	Detail
Clinical expression of hemochromatosis was assessed as a function of TLR4, TLR9, and NOD2 polymorphi...	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: rs137853920 dbSNP
Genome: hg38
Position: chr9:117,712,970-117,712,970
Variant Type: snv
Reference Allele: G
Alternative Allele: A
East Asian Chromosome Counts (ExAC): 8640
East Asian Allele Counts (ExAC): 0
East Asian Heterozygous Counts (ExAC): 0
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 0.0
Chromosome Counts in All Race (ExAC): 121274
Allele Counts in All Race (ExAC): 252
Heterozygous Counts in All Race (ExAC): 252
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 0.0020779392120322576

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