Annotation Detail
Information
- Associated Genes
- C3
- Associated Variants
-
C3 p.Glu1160Lys (p.E1160K)
(
ENST00000245907.11,
ENST00000695653.1 )
C3 p.Glu1160Lys (p.E1160K) ( ENST00000245907.11, ENST00000695653.1 ) - Associated Disease
- not provided
- Source Database
- ClinVar
- Description
- NM_000064.4(C3):c.3478G>A (p.Glu1160Lys) AND not provided
- ClinVar Allele ID
- 1866677
- ClinVar RefSeq Alternation Syntax
- NM_000064.4:c.3478G>A
- Clinical Significance Description
- Uncertain significance
- Clinical Significance Last Update
- 2022-12-17
- Clinical Significance Review Status
- criteria provided, single submitter
- URL
- https://www.ncbi.nlm.nih.gov/clinvar/RCV002481224
- ClinVar Disease
- not provided
- Observed Origin Sample
- germline
Drugs