R31* (p.Arg31Ter) variant of CACNA1A (O00555)
R31* (p.Arg31Ter) in CACNA1A (O00555) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R31* (p.Arg31Ter) variant details
- p.Arg31Ter
- rs2513709839
- ClinGen CA404971227
- ClinVar RCV003336697
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. (PMID 20050888)
- Cited in: Hereditary Ataxia Overview. (PMID 20301317)