E195* (p.Glu195Ter) variant of SMC1A (Q14683)
E195* (p.Glu195Ter) in SMC1A (Q14683) is a protein-truncating change. Clinical records from EBI and UniProt describe it as likely pathogenic. The record also includes published literature and structural context.
E195* (p.Glu195Ter) variant details
- p.Glu195Ter
- rs1602413582
- ClinGen CA413259192
- ClinVar RCV000990835
- Ensembl rs1602413582
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Cornelia de Lange Syndrome. (PMID 20301283)