Q29* (p.Gln29Ter) variant of PLN (Phospholamban)
Q29* (p.Gln29Ter) in PLN (Phospholamban) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Q29* (p.Gln29Ter) variant details
- p.Gln29Ter
- rs1779072006
- ClinGen CA365546360
- ClinVar RCV001221395
- ClinVar RCV004032418
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)