E30* (p.Glu30Ter) variant of SLC12A3 (P55017)
E30* (p.Glu30Ter) in SLC12A3 (P55017) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes population frequency data, published literature, and structural context.
E30* (p.Glu30Ter) variant details
- p.Glu30Ter
- rs751675724
- ClinGen CA8068909
- ClinVar RCV001888736
- ClinVar RCV002503482
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Population evidence available
- Structural context available
- Cited in: Clinical utility gene card for: Gitelman syndrome. (PMID 21343949)