R105* (p.Arg105Ter) variant of SMARCE1 (Q969G3)
R105* (p.Arg105Ter) in SMARCE1 (Q969G3) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
R105* (p.Arg105Ter) variant details
- p.Arg105Ter
- rs1060501395
- ClinGen CA16615351
- ClinVar RCV000466082
- Ensembl rs1060501395
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: MN1 C-Terminal Truncation Syndrome. (PMID 32790267)