E2* (p.Glu2Ter) variant of LMNA (Prelamin-A/C)
E2* (p.Glu2Ter) in LMNA (Prelamin-A/C) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
E2* (p.Glu2Ter) variant details
- p.Glu2Ter
- rs1558115754
- ClinGen CA342805855
- ClinVar RCV000688289
- ClinVar RCV002343440
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Charcot-Marie-Tooth Hereditary Neuropathy Overview. (PMID 20301532)