Annotation Detail
Information
- Associated Genes
- CFB
- Associated Variants
-
ENSG00000244255 c.3646-74A>G, CFB c.2140-74A>G
(
ENST00000425368.7,
ENST00000483004.2,
ENST00000698628.1 )
ENSG00000244255 c.3646-74A>G, CFB c.2140-74A>G ( ENST00000425368.7, ENST00000483004.2, ENST00000698628.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_001710.6(CFB):c.2140-74A>G AND not provided
- ClinVar Allele ID
- 1199752
- ClinVar RefSeq Alternation Syntax
- NM_001710.6:c.2140-74A>G
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2018-11-10
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV001694129
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs