Annotation Detail
Information
- Associated Genes
- CFB C2
- Associated Variants
-
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q)
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 p.Arg534Gln (p.R534Q), CFB p.Arg32Gln (p.R32Q) ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- complement component 2 deficiency age related macular degeneration 14
- Source Database
- ClinVar
- Description
- NM_001710.5(CFB):c.95G>A (p.Arg32Gln) AND multiple conditions
- ClinVar Allele ID
- 31114
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.95G>A
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2022-04-22
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002504800
- ClinVar Disease
- Complement component 2 deficiency
- ClinVar Disease
- Age related macular degeneration 14
- Observed Origin Sample
- unknown
Drugs