Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E)
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 p.Lys1067Glu (p.K1067E), CFB p.Lys565Glu (p.K565E) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- atypical hemolytic-uremic syndrome
- Source Database
- ClinVar
- Description
- NM_001710.6(CFB):c.1693A>G (p.Lys565Glu) AND Atypical hemolytic-uremic syndrome
- ClinVar Allele ID
- 307120
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.1693A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-07-08
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002294321
- ClinVar Disease
- Atypical hemolytic-uremic syndrome
- Observed Origin Sample
- germline
Drugs