Q173H (p.Gln173His) variant of PKP2 (Plakophilin-2)
Q173H (p.Gln173His) in PKP2 (Plakophilin-2) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of Arrhythmogenic right ventricular cardiomyopathy; Cardiovascular phenotype. The record also includes published literature and structural context.
Q173H (p.Gln173His) variant details
- p.Gln173His
- rs1387606757
- ClinGen CA384364766
- ClinVar RCV004016432
- ClinVar RCV006348008
- Uncertain significance
- Arrhythmogenic right ventricular cardiomyopathy; Cardiovascular phenotype
- Missense
- ClinVar: Uncertain significance (Arrhythmogenic right ventricular cardiomyopathy; Cardiovascular)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Structural context available
- Cited in: Arrhythmogenic Right Ventricular Cardiomyopathy Overview. (PMID 20301310)
- Cited in: HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this… (PMID 21810866)