Annotation Detail
Information
- Associated Genes
- CFB C2
- Associated Variants
-
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=)
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 p.Arg652= (p.R652=), CFB p.Arg150= (p.R150=) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- Atypical hemolytic-uremic syndrome with B factor anomaly
- Source Database
- ClinVar
- Description
- NM_001710.6(CFB):c.450A>G (p.Arg150=) AND Atypical hemolytic-uremic syndrome with B factor anomaly
- ClinVar Allele ID
- 302401
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.450A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2021-07-22
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000298932
- ClinVar Disease
- Atypical hemolytic-uremic syndrome with B factor anomaly
- Observed Origin Sample
- germline
Drugs