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
- complement component 2 deficiency
- Source Database
- ClinVar
- Description
- NM_001710.6(CFB):c.26T>A (p.Leu9His) AND Complement component 2 deficiency
- ClinVar Allele ID
- 31116
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.26T>A
- Clinical Significance Description
- Benign/Likely benign
- Clinical Significance Last Update
- 2019-05-28
- Clinical Significance Review Status
- criteria provided, multiple submitters, no conflicts
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000385220
- ClinVar Disease
- Complement component 2 deficiency
- Observed Origin Sample
- germline
- Observed Origin Sample
- unknown
Drugs