chr7:128948946:T>C Detail (hg38) (IRF5)

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

Genome

Assembly	Position
hg19	chr7:128,589,000-128,589,000 View the variant detail on this assembly version.
hg38	chr7:128,948,946-128,948,946

HGVS

IRF5

Type	Transcript	Protein
RefSeq	NM_001098629.2:c.*128T>C
	NM_001098630.2:c.*128T>C
	NM_001098627.3:c.*128T>C
	NM_001347928.1:c.*128T>C
Ensemble	ENST00000357234.10:c.*128T>C
	ENST00000402030.6:c.*128T>C
	ENST00000473745.5:c.*128T>C
	ENST00000489702.6:c.*128T>C

Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics	Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance	risk factor
Review star
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Links

IRF5

Type	Database	ID	Link
Gene	MIM	607218	OMIM
	HGNC	6120	HGNC
	Ensembl	ENSG00000128604	Ensembl
	NCBI		NCBI
	Gene Cards		Gene Cards
	OncoKB		OncoKB

Type	Database	ID	Link
Variant	TogoVar	tgv352270947	TogoVar
	COSMIC
	MONDO

Disease area statistics

[No Data.]

MGeND

[No Data.]

ClinVar

Clinical significance	Last evaluated	Review status	Condition	Origin	Links
risk factor	2007-07-01	no assertion criteria provided	Systemic lupus erythematosus, association with susceptibility to, 10	germline	Detail

CIViC

[No Data.]

DisGeNET

Score	Disease name	Description	Source	Pubmed	Links
0.004	Lupus Erythematosus, Discoid	Importantly, our data suggest that in patients with lupus, the presence of the H...	BeFree	21952918	Detail
0.235	Lupus Erythematosus, Systemic	Importantly, our data suggest that in patients with lupus, the presence of the H...	BeFree	21952918	Detail
0.004	Lupus Vulgaris	Importantly, our data suggest that in patients with lupus, the presence of the H...	BeFree	21952918	Detail
0.018	lupus erythematosus	Importantly, our data suggest that in patients with lupus, the presence of the H...	BeFree	21952918	Detail

Annotation

Annotations

Descrption	Source	Links
NM_001098629.3(IRF5):c.*128T>C AND Systemic lupus erythematosus, association with susceptibility to,...	ClinVar	Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele...	DisGeNET	Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele...	DisGeNET	Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele...	DisGeNET	Detail
Importantly, our data suggest that in patients with lupus, the presence of the HLA lupus risk allele...	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: rs2070197 dbSNP
Genome: hg38
Position: chr7:128,948,946-128,948,946
Variant Type: snv
Reference Allele: T
Alternative Allele: C

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