chr1:161671427:C>T Detail (hg38) (FCGR2B)

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

Genome

Assembly	Position
hg19	chr1:161,641,217-161,641,217 View the variant detail on this assembly version.
hg38	chr1:161,671,427-161,671,427

HGVS

FCGR2B

Type	Transcript	Protein
RefSeq	NM_001002273.2:c.169C>T	NP_001002273.1:p.Gln57Ter
	NM_001002274.2:c.169C>T	NP_001002274.1:p.Gln57Ter
	NM_001002275.2:c.169C>T	NP_001002275.1:p.Gln57Ter
	NM_004001.4:c.169C>T	NP_003992.3:p.Gln57Ter
	NM_001190828.1:c.148C>T	NP_001177757.1:p.Gln50Ter
Ensemble	ENST00000236937.13:c.169C>T	ENST00000236937.13:p.Gln57Ter
	ENST00000358671.10:c.169C>T	ENST00000358671.10:p.Gln57Ter
	ENST00000367961.8:c.148C>T	ENST00000367961.8:p.Gln50Ter

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

FCGR2B

Type	Database	ID	Link
Gene	MIM	604590	OMIM
	HGNC	3618	HGNC
	Ensembl	ENSG00000072694	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv3532493	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
<0.001	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

Annotation

Annotations

Descrption	Source	Links
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

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: chr1:161,671,427-161,671,427
Variant Type: snv
Reference Allele: C
Alternative Allele: T
East Asian Chromosome Counts (ExAC): 8652
East Asian Allele Counts (ExAC): 1
East Asian Heterozygous Counts (ExAC): 1
East Asian Homozygous Counts (ExAC): 0
East Asian Allele Frequency (ExAC): 1.155802126675913E-4
Chromosome Counts in All Race (ExAC): 121388
Allele Counts in All Race (ExAC): 4
Heterozygous Counts in All Race (ExAC): 4
Homozygous Counts in All Race (ExAC): 0
Allele Frequency in All Race (ExAC): 3.295218637756615E-5

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