Annotation Detail
Information
- Associated Genes
- FCGR2A
- Associated Variants
-
FCGR2A p.His167Arg (p.H167R)
(
ENST00000699278.1,
ENST00000367972.8,
ENST00000699277.1,
ENST00000271450.12,
ENST00000699279.1 )
FCGR2A p.His167Arg (p.H167R) ( ENST00000271450.12, ENST00000367972.8, ENST00000699277.1, ENST00000699278.1, ENST00000699279.1 ) - Associated Disease
- Lupus nephritis, susceptibility to
- Source Database
- ClinVar
- Description
- NM_001136219.3(FCGR2A):c.500A>G (p.His167Arg) AND Lupus nephritis, susceptibility to
- ClinVar Allele ID
- 29862
- ClinVar RefSeq Alternation Syntax
- NM_001375296.1:c.500A>G
- ClinVar RefSeq Alternation Syntax
- NM_001136219.3:c.500A>G
- ClinVar RefSeq Alternation Syntax
- NM_021642.5:c.497A>G
- ClinVar RefSeq Alternation Syntax
- NM_001375297.1:c.497A>G
- Clinical Significance Description
- risk factor
- Clinical Significance Last Update
- 2010-07-01
- Clinical Significance Review Status
- no assertion criteria provided
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000015946
- ClinVar Disease
- Lupus nephritis, susceptibility to
- Observed Origin Sample
- germline
- Pubmed
- 19915573
- Pubmed
- 10675363
- Pubmed
- 8636449
- Pubmed
- 9843982
- Pubmed
- 19965803
- Pubmed
- 15367919
Drugs