Annotation Detail
Information
- Associated Genes
- IRF5
- Associated Variants
-
IRF5 c.*128T>C
(
ENST00000357234.10,
ENST00000402030.6,
ENST00000473745.5,
ENST00000489702.6 )
IRF5 c.*128T>C ( ENST00000357234.10, ENST00000402030.6, ENST00000473745.5, ENST00000489702.6 ) - Associated Disease
- Systemic lupus erythematosus, association with susceptibility to, 10
- Source Database
- ClinVar
- Description
- NM_001098629.3(IRF5):c.*128T>C AND Systemic lupus erythematosus, association with susceptibility to, 10
- ClinVar Allele ID
- 18437
- ClinVar RefSeq Alternation Syntax
- NM_001098630.3:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_032643.5:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_001098627.4:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_001098629.3:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_001364314.2:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_001242452.3:c.*128T>C
- ClinVar RefSeq Alternation Syntax
- NM_001347928.2:c.*128T>C
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2007-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000003567
- ClinVar Disease
- Systemic lupus erythematosus, association with susceptibility to, 10
- Observed Origin Sample
- germline
- Pubmed
- 17393452
- Pubmed
- 17189288
- Pubmed
- 17476532
- Pubmed
- 16642019
Drugs