E11* (p.Glu11Ter) variant of KCNA1 (Q09470)
E11* (p.Glu11Ter) in KCNA1 (Q09470) is a protein-truncating change. Clinical records from EBI and UniProt describe it as uncertain significance. The record also includes published literature and structural context.
E11* (p.Glu11Ter) variant details
- p.Glu11Ter
- rs2497351218
- ClinGen CA383453648
- ClinVar RCV003052537
- Uncertain significance
- Stop Gained
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- 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)