Q70H (p.Gln70His) variant of ATP7B (Copper-transporting ATPase 2)
Q70H (p.Gln70His) in ATP7B (Copper-transporting ATPase 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q70H (p.Gln70His) variant details
- p.Gln70His
- rs2547825080
- ClinGen CA2580087776
- ClinVar RCV002635194
- Pathogenic
- Frameshift
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Diagnosis and treatment of Wilson disease: an update. (PMID 18506894)
- Cited in: Wilson Disease. (PMID 20301685)