chr1:161595986:C>G Detail (hg19) (FCGR3B)

Information

Genome

Assembly Position
hg19 chr1:161,595,986-161,595,986
hg38 chr1:161,626,196-161,626,196 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_000570.4:c.526G>C NP_000561.3:p.Val176Leu
Ensemble ENST00000650385.1:c.526G>C ENST00000650385.1:p.Val176Leu
ENST00000367964.6:c.526G>C ENST00000367964.6:p.Val176Leu
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
Type Database ID Link
Gene MIM 610665 OMIM
HGNC 3620 HGNC
Ensembl ENSG00000162747 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 HIV Infections A pilot candidate gene association study was conducted to investigate the role o... BeFree 17710620 Detail
0.034 Lupus Erythematosus, Systemic FCGR2A-H131R, FCGR2B-I232T, FCGR3A-F176V, and FCGR3B genotypes were determined i... BeFree 14651519 Detail
0.001 HIV Infections A pilot candidate gene association study was conducted to investigate the role o... BeFree 17710620 Detail
0.006 HIV Infections A pilot candidate gene association study was conducted to investigate the role o... BeFree 17710620 Detail
Annotation

Annotations

DescrptionSourceLinks
We conducted a meta-analysis on the association between FCGR2A H131R (rs1801274), FCGR3A F158V (rs39... DisGeNET Detail
A pilot candidate gene association study was conducted to investigate the role of three common funct... DisGeNET Detail
FCGR2A-H131R, FCGR2B-I232T, FCGR3A-F176V, and FCGR3B genotypes were determined in 167 Chinese patien... DisGeNET Detail
A pilot candidate gene association study was conducted to investigate the role of three common funct... DisGeNET Detail
A pilot candidate gene association study was conducted to investigate the role of three common funct... 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
hg19
Position
chr1:161,595,986-161,595,986
Variant Type
snv
Reference Allele
C
Alternative Allele
G
East Asian Chromosome Counts (ExAC)
8642
East Asian Allele Counts (ExAC)
1
East Asian Heterozygous Counts (ExAC)
1
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
1.1571395510298542E-4
Chromosome Counts in All Race (ExAC)
120950
Allele Counts in All Race (ExAC)
3
Heterozygous Counts in All Race (ExAC)
3
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
2.4803637866887144E-5
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