E42* (p.Glu42Ter) variant of SLC8A1 (Sodium/calcium exchanger 1)
E42* (p.Glu42Ter) in SLC8A1 (Sodium/calcium exchanger 1) is a protein-truncating change. The record also includes structural context.
E42* (p.Glu42Ter) variant details
- p.Glu42Ter
- cosmic curated COSV60480
- Stop Gained
- Structural context available