chr1:161544752:A>G Detail (hg38) (FCGR3A)

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

Genome

Assembly	Position
hg19	chr1:161,514,542-161,514,542 View the variant detail on this assembly version.
hg38	chr1:161,544,752-161,544,752

HGVS

FCGR3A

Type	Transcript	Protein
RefSeq	NM_000569.6:c.523T>C	NP_000560.5:p.Phe175Leu
	NM_001127592.1:c.523T>C	NP_001121064.1:p.Phe175Leu
	NM_001127593.1:c.526T>C	NP_001121065.1:p.Phe176Leu
	NM_001127595.1:c.526T>C	NP_001121067.1:p.Phe176Leu
	NM_001127596.1:c.526T>C	NP_001121068.1:p.Phe176Leu
Ensemble	ENST00000367967.8:c.526T>C	ENST00000367967.8:p.Phe176Leu
	ENST00000426740.8:c.523T>C	ENST00000426740.8:p.Phe175Leu
	ENST00000436743.7:c.526T>C	ENST00000436743.7:p.Phe176Leu
	ENST00000443193.6:c.526T>C	ENST00000443193.6:p.Phe176Leu
	ENST00000699395.1:c.526T>C	ENST00000699395.1:p.Phe176Leu
	ENST00000699396.1:c.526T>C	ENST00000699396.1:p.Phe176Leu
	ENST00000699397.1:c.526T>C	ENST00000699397.1:p.Phe176Leu
	ENST00000699398.1:c.526T>C	ENST00000699398.1:p.Phe176Leu
	ENST00000699399.1:c.475T>C	ENST00000699399.1:p.Phe159Leu
	ENST00000699400.1:c.523T>C	ENST00000699400.1:p.Phe175Leu
	ENST00000699401.1:c.526T>C	ENST00000699401.1:p.Phe176Leu

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

FCGR3A

Type	Database	ID	Link
Gene	MIM	146740	OMIM
	HGNC	3619	HGNC
	Ensembl	ENSG00000203747	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
0.004	rheumatoid arthritis	We conducted a meta-analysis on the association between FCGR2A H131R (rs1801274)...	BeFree	26314337	Detail
0.008	celiac disease	We studied the FcgammaRIIaA519G (rs1801274) and FcgammaRIIIaA559C (rs396991) s...	BeFree	19140833	Detail
<0.001	periodontitis	Associations between FCGR2A rs1801274, FCGR3A rs396991, FCGR3B NA1/NA2 polymorph...	BeFree	23649770	Detail
<0.001	asthma	Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-18...	BeFree	24586589	Detail
0.003	asthma	Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-18...	BeFree	24586589	Detail
0.003	asthma	Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-18...	BeFree	24586589	Detail
0.003	Autoimmune Diseases	These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a rol...	BeFree	23075294	Detail
0.073	rheumatoid arthritis	Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato...	BeFree	18565259	Detail
0.062	rheumatoid arthritis	Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumato...	BeFree	18565259	Detail

Annotation

Annotations

Descrption	Source	Links
We conducted a meta-analysis on the association between FCGR2A H131R (rs1801274), FCGR3A F158V (rs39...	DisGeNET	Detail
We studied the FcgammaRIIaA519G (rs1801274) and FcgammaRIIIaA559C (rs396991) single nucleotide pol...	DisGeNET	Detail
Associations between FCGR2A rs1801274, FCGR3A rs396991, FCGR3B NA1/NA2 polymorphisms and periodontit...	DisGeNET	Detail
Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-187Ile>Thr, rs10505...	DisGeNET	Detail
Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-187Ile>Thr, rs10505...	DisGeNET	Detail
Functional SNPs of FCGR2A (FcγRIIA-131His>Arg, rs1801274), FCGR2B (FcγRIIB-187Ile>Thr, rs10505...	DisGeNET	Detail
These results suggest that FCGR3A-158F/V (rs396991) gene polymorphism play a role in the response to...	DisGeNET	Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated...	DisGeNET	Detail
Influence of FCGR3A-V212F and TNFRSF1B-M196R genotypes in patients with rheumatoid arthritis treated...	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: chr1:161,544,752-161,544,752
Variant Type: snv
Reference Allele: A
Alternative Allele: G
East Asian Chromosome Counts (ExAC): 8562
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): 120568
Allele Counts in All Race (ExAC): 1
Heterozygous Counts in All Race (ExAC): 1
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 8.294074713025015E-6

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