Annotation Detail
Information
- Associated Genes
- CFB C2
- Associated Variants
-
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H)
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 c.1571-126T>A, CFB p.Leu9His (p.L9H) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- Atypical hemolytic-uremic syndrome with B factor anomaly Complement factor b deficiency age related macular degeneration 14
- Source Database
- ClinVar
- Description
- NM_001710.6(CFB):c.26T>A (p.Leu9His) AND multiple conditions
- ClinVar Allele ID
- 31116
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.26T>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-04-25
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002490378
- ClinVar Disease
- Age related macular degeneration 14
- ClinVar Disease
- Complement factor b deficiency
- ClinVar Disease
- Atypical hemolytic-uremic syndrome with B factor anomaly
- Observed Origin Sample
- unknown
Drugs