Annotation Detail
Information
- Associated Genes
- C3
- Associated Variants
-
C3 p.Pro314Leu (p.P314L)
(
ENST00000245907.11 )
C3 p.Pro314Leu (p.P314L) ( ENST00000245907.11 ) - Associated Disease
- complement component 3 deficiency
- Source Database
- ClinVar
- Description
- NM_000064.4(C3):c.941C>T (p.Pro314Leu) AND Complement component 3 deficiency
- ClinVar Allele ID
- 32096
- ClinVar RefSeq Alternation Syntax
- NM_000064.4:c.941C>T
- Clinical Significance Description
- Benign
- Clinical Significance Last Update
- 2017-04-27
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV000380392
- ClinVar Disease
- Complement component 3 deficiency
- Observed Origin Sample
- germline
Drugs