Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
CFB c.*23C>T
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
CFB c.*23C>T ( 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.*23C>T AND Atypical hemolytic-uremic syndrome with B factor anomaly
- ClinVar Allele ID
- 306830
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.*23C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-01-13
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000389429
- ClinVar Disease
- Atypical hemolytic-uremic syndrome with B factor anomaly
- Observed Origin Sample
- germline
Drugs