W59* (p.Trp59Ter) variant of SLC19A3 (Thiamine transporter 2)
W59* (p.Trp59Ter) 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.
W59* (p.Trp59Ter) variant details
- p.Trp59Ter
- rs2470575306
- ClinGen CA350877770
- ClinVar RCV003613167
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Biotin-Thiamine-Responsive Basal Ganglia Disease. (PMID 24260777)