Y63* (p.Tyr63Ter) variant of SLC19A3 (Thiamine transporter 2)
Y63* (p.Tyr63Ter) in SLC19A3 (Thiamine transporter 2) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
Y63* (p.Tyr63Ter) variant details
- p.Tyr63Ter
- rs1559250774
- ClinGen CA350877742
- ClinVar RCV000760653
- ClinVar RCV001387186
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)