R63* (p.Arg63Ter) variant of SLC12A1 (Q13621)
R63* (p.Arg63Ter) in SLC12A1 (Q13621) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes structural context.
R63* (p.Arg63Ter) variant details
- p.Arg63Ter
- rs2041000812
- ClinGen CA2175404641
- ClinVar RCV003671467
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available