chr16:27356203:A>C Detail (hg19) (IL4R)

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

Genome

Assembly	Position
hg19	chr16:27,356,203-27,356,203
hg38	chr16:27,344,882-27,344,882 View the variant detail on this assembly version.

HGVS

IL4R

Type	Transcript	Protein
RefSeq	NM_001257406.1:c.223A>C	NP_001244335.1:p.Ile75Leu
	NM_001257407.1:c.223A>C	NP_001244336.1:p.Ile75Leu
	NM_001257997.1:c.223A>C	NP_001244926.1:p.Ile75Leu
	NM_000418.3:c.223A>C	NP_000409.1:p.Ile75Leu
Ensemble	ENST00000543915.6:c.223A>C	ENST00000543915.6:p.Ile75Leu
	ENST00000170630.6:c.178A>C	ENST00000170630.6:p.Ile60Leu
	ENST00000395762.7:c.223A>C	ENST00000395762.7:p.Ile75Leu

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star	[No Data.]
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Links

IL4R

Type	Database	ID	Link
Gene	MIM	147781	OMIM
	HGNC	6015	HGNC
	Ensembl	ENSG00000077238	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	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
0.055	asthma	To investigate associations between total serum immunoglobulin E (IgE) levels an...	BeFree	22376040	Detail
0.038	asthma	To investigate associations between total serum immunoglobulin E (IgE) levels an...	BeFree	22376040	Detail
0.266	asthma	To investigate associations between total serum immunoglobulin E (IgE) levels an...	BeFree	22376040	Detail
0.006	Rheumatoid Nodule	We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid...	BeFree	20444266	Detail
0.055	asthma	To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and G...	BeFree	22533235	Detail
0.014	rheumatoid arthritis	Increased Th17 cell frequency and poor clinical outcome in rheumatoid arthritis ...	BeFree	24782180	Detail
0.005	diffuse large B-cell lymphoma	[Favorable impact of the interleukin-4 receptor allelic variant I75 on the survi...	GAD	19515749	Detail
0.033	rheumatoid arthritis	The data indicate that the rs1805010 minor allele contributes to increased Th17 ...	BeFree	24782180	Detail

Annotation

Annotations

Descrption	Source	Links
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ...	DisGeNET	Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ...	DisGeNET	Detail
To investigate associations between total serum immunoglobulin E (IgE) levels and single nucleotide ...	DisGeNET	Detail
We found that IL4R SNPs, rs1801275 and rs1805010, are associated with rheumatoid nodules in autoanti...	DisGeNET	Detail
To investigate whether the single-nucleotide polymorphisms (SNPs) Ile75Val and Gln576Arg in the IL4R...	DisGeNET	Detail
Increased Th17 cell frequency and poor clinical outcome in rheumatoid arthritis are associated with ...	DisGeNET	Detail
[Favorable impact of the interleukin-4 receptor allelic variant I75 on the survival of diffuse large...	DisGeNET	Detail
The data indicate that the rs1805010 minor allele contributes to increased Th17 cell frequency, enha...	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: rs1805010 dbSNP
Genome: hg19
Position: chr16:27,356,203-27,356,203
Variant Type: snv
Reference Allele: A
Alternative Allele: C

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