W65* (p.Trp65Ter) variant of SLC2A1 (P11166)
W65* (p.Trp65Ter) in SLC2A1 (P11166) 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.
W65* (p.Trp65Ter) variant details
- p.Trp65Ter
- rs2524999434
- ClinGen CA339962096
- ClinVar RCV003337741
- Likely pathogenic
- Stop Gained
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- Structural context available
- Cited in: Glucose Transporter Type 1 Deficiency Syndrome. (PMID 20301603)
- Cited in: EFNS guidelines on diagnosis and treatment of primary dystonias. (PMID 20482602)