K32* (p.Lys32Ter) variant of LMNA (Prelamin-A/C)
K32* (p.Lys32Ter) in LMNA (Prelamin-A/C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic in the context of in EDMD2. The record also includes published literature and structural context.
K32* (p.Lys32Ter) variant details
- p.Lys32Ter
- rs1553261891
- ClinGen CA342807427
- ClinVar RCV000812291
- ClinVar RCV004789213
- Pathogenic
- in EDMD2
- Stop Gained
- EBI: Pathogenic (in EDMD2)
- UniProt: Pathogenic (in EDMD2)
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)
- Cited in: Dilated Cardiomyopathy Overview. (PMID 20301486)