Q57* (p.Gln57Ter) variant of ATP7A (Copper-transporting ATPase 1)
Q57* (p.Gln57Ter) in ATP7A (Copper-transporting ATPase 1) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q57* (p.Gln57Ter) variant details
- p.Gln57Ter
- rs2522288858
- ClinGen CA413598883
- ClinVar RCV002820783
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: ATP7A-Related Copper Transport Disorders. (PMID 20301586)
- Cited in: Clinical utility gene card for: Menkes disease. (PMID 21487442)