Annotation Detail

Information
Associated Genes
IRF5
Associated Variants
IRF5 c.*555G>A ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 )
IRF5 c.*555G>A ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 )
Associated Disease
Systemic lupus erythematosus, susceptibility to, 10
Source Database
ClinVar
Description
NM_001098629.3(IRF5):c.*555G>A AND Systemic lupus erythematosus, susceptibility to, 10
ClinVar Allele ID
18436
ClinVar RefSeq Alternation Syntax
NM_001364314.2:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_001098627.4:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_032643.5:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_001098629.3:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_001098630.3:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_001347928.2:c.*555G>A
ClinVar RefSeq Alternation Syntax
NM_001242452.3:c.*555G>A
Clinical Significance Description
risk factor
Clinical Significance Last Update
2008-03-15
Clinical Significance Review Status
no assertion criteria provided
URL
https://www.ncbi.nlm.nih.gov/clinvar/RCV000003566
ClinVar Disease
Systemic lupus erythematosus, susceptibility to, 10
Observed Origin Sample
germline
Pubmed
18063667
Pubmed
17189288
Drugs